Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523350_131523354delinsCAGGG , CM000671.2:g.131523350_131523354delinsCAGGG	GRCh38
NC_000009.11:g.134398737_134398741delinsCAGGG , CM000671.1:g.134398737_134398741delinsCAGGG	GRCh37
NC_000009.10:g.133388558_133388562delinsCAGGG	NCBI36
NG_008896.1:g.25449_25453delinsCAGGG
NG_008896.2:g.25449_25453delinsCAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.244_248delinsCAGGG	ENSP00000343034.7:n.244_248delinsCAGGG
ENST00000404875.7:n.2962_2966delinsCAGGG
ENST00000677295.2:c.2766_2770delinsCAGGG	ENSP00000504346.2:n.2766_2770delinsCAGGG
ENST00000678264.2:c.2605_2609delinsCAGGG	ENSP00000503157.2:n.2605_2609delinsCAGGG
ENST00000682070.1:n.2732_2736delinsCAGGG
ENST00000682639.1:c.240-113_240-109delinsCAGGG
ENST00000682813.1:n.2819_2823delinsCAGGG
ENST00000683231.1:c.272_276delinsCAGGG
ENST00000683392.1:n.5014_5018delinsCAGGG
ENST00000683900.1:n.4322_4326delinsCAGGG
ENST00000684062.1:n.3088_3092delinsCAGGG
ENST00000684399.1:c.240-3_241delinsCAGGG
ENST00000684579.1:n.4268_4272delinsCAGGG
ENST00000341012.12:c.244_248delinsCAGGG	ENSP00000343034.7:n.244_248delinsCAGGG
ENST00000372220.5:c.244_248delinsCAGGG	ENSP00000361294.5:n.244_248delinsCAGGG
ENST00000372228.9:c.244_248delinsCAGGG	ENSP00000361302.3:n.244_248delinsCAGGG
ENST00000402686.8:c.244_248delinsCAGGG MANE Select	ENSP00000385797.4:n.244_248delinsCAGGG
ENST00000676640.1:c.244_248delinsCAGGG	ENSP00000503281.1:n.244_248delinsCAGGG
ENST00000676803.1:c.244_248delinsCAGGG	ENSP00000503093.1:n.244_248delinsCAGGG
ENST00000676835.1:c.1637_1641delinsCAGGG	ENSP00000502911.1:n.1637_1641delinsCAGGG
ENST00000677029.1:c.244_248delinsCAGGG	ENSP00000502936.1:n.244_248delinsCAGGG
ENST00000677099.1:c.2132_2136delinsCAGGG	ENSP00000504553.1:n.2132_2136delinsCAGGG
ENST00000677216.1:c.244_248delinsCAGGG	ENSP00000503772.1:n.244_248delinsCAGGG
ENST00000677295.1:c.1644_1648delinsCAGGG	ENSP00000504346.1:n.1644_1648delinsCAGGG
ENST00000677444.1:c.2367_2371delinsCAGGG
ENST00000677626.1:c.244_248delinsCAGGG	ENSP00000503552.1:n.244_248delinsCAGGG
ENST00000677853.1:c.1430_1434delinsCAGGG	ENSP00000503488.1:n.1430_1434delinsCAGGG
ENST00000678303.1:c.244_248delinsCAGGG	ENSP00000503696.1:n.244_248delinsCAGGG
ENST00000678366.1:c.2671_2675delinsCAGGG	ENSP00000504353.1:n.2671_2675delinsCAGGG
ENST00000678546.1:c.2367_2371delinsCAGGG	ENSP00000503062.1:n.2367_2371delinsCAGGG
ENST00000678548.1:c.2561_2565delinsCAGGG	ENSP00000503934.1:n.2561_2565delinsCAGGG
ENST00000678626.1:n.2258_2262delinsCAGGG
ENST00000678739.1:c.2588_2592delinsCAGGG	ENSP00000503806.1:n.2588_2592delinsCAGGG
ENST00000678833.1:c.2174_2178delinsCAGGG	ENSP00000503893.1:n.2174_2178delinsCAGGG
ENST00000679023.1:c.68_72delinsCAGGG	ENSP00000503718.1:n.68_72delinsCAGGG
ENST00000679076.1:c.2041_2045delinsCAGGG
ENST00000679111.1:c.1178_1182delinsCAGGG	ENSP00000504257.1:n.1178_1182delinsCAGGG
ENST00000341012.11:c.244_248delinsCAGGG	ENSP00000343034.7:n.244_248delinsCAGGG
ENST00000372220.4:c.1285_1289delinsCAGGG	ENSP00000361294.4:n.1285_1289delinsCAGGG
ENST00000372228.7:c.244_248delinsCAGGG	ENSP00000361302.3:n.244_248delinsCAGGG
ENST00000402686.7:c.244_248delinsCAGGG	ENSP00000385797.3:n.244_248delinsCAGGG
ENST00000404875.6:c.244_248delinsCAGGG	ENSP00000384531.2:n.244_248delinsCAGGG
ENST00000423007.5:c.244_248delinsCAGGG	ENSP00000404119.1:n.244_248delinsCAGGG
ENST00000485278.5:n.2972_2976delinsCAGGG
NM_001077365.1:c.244_248delinsCAGGG	NP_001070833.1:n.244_248delinsCAGGG
NM_001077366.1:c.244_248delinsCAGGG	NP_001070834.1:n.244_248delinsCAGGG
NM_001136113.1:c.244_248delinsCAGGG	NP_001129585.1:n.244_248delinsCAGGG
NM_001136114.1:c.244_248delinsCAGGG	NP_001129586.1:n.244_248delinsCAGGG
NM_007171.3:c.244_248delinsCAGGG	NP_009102.3:n.244_248delinsCAGGG
XM_005272156.1:c.244_248delinsCAGGG	XP_005272213.1:n.244_248delinsCAGGG
XM_005272158.1:c.244_248delinsCAGGG	XP_005272215.1:n.244_248delinsCAGGG
XM_005272159.1:c.244_248delinsCAGGG	XP_005272216.1:n.244_248delinsCAGGG
XM_005272162.1:c.244_248delinsCAGGG	XP_005272219.1:n.244_248delinsCAGGG
XM_006716932.1:c.244_248delinsCAGGG	XP_006716995.1:n.244_248delinsCAGGG
XM_011518140.1:c.244_248delinsCAGGG	XP_011516442.1:n.244_248delinsCAGGG
XM_011518141.1:c.244_248delinsCAGGG	XP_011516443.1:n.244_248delinsCAGGG
XM_011518142.1:c.244_248delinsCAGGG	XP_011516444.1:n.244_248delinsCAGGG
XM_011518143.1:c.244_248delinsCAGGG	XP_011516445.1:n.244_248delinsCAGGG
XM_011518145.1:c.244_248delinsCAGGG	XP_011516447.1:n.244_248delinsCAGGG
XM_011518147.1:c.244_248delinsCAGGG	XP_011516449.1:n.244_248delinsCAGGG
XR_929703.1:n.2488_2492delinsCAGGG
NM_001353193.1:c.244_248delinsCAGGG	NP_001340122.1:n.244_248delinsCAGGG
NM_001353194.1:c.244_248delinsCAGGG	NP_001340123.1:n.244_248delinsCAGGG
NM_001353195.1:c.244_248delinsCAGGG	NP_001340124.1:n.244_248delinsCAGGG
NM_001353196.1:c.244_248delinsCAGGG	NP_001340125.1:n.244_248delinsCAGGG
NM_001353197.1:c.244_248delinsCAGGG	NP_001340126.1:n.244_248delinsCAGGG
NM_001353198.1:c.244_248delinsCAGGG	NP_001340127.1:n.244_248delinsCAGGG
NM_001353199.1:c.244_248delinsCAGGG	NP_001340128.1:n.244_248delinsCAGGG
NM_001353200.1:c.244_248delinsCAGGG	NP_001340129.1:n.244_248delinsCAGGG
NR_148391.1:n.2296_2300delinsCAGGG
NR_148392.1:n.2514_2518delinsCAGGG
NR_148393.1:n.2611_2615delinsCAGGG
NR_148394.1:n.2365_2369delinsCAGGG
NR_148395.1:n.2763_2767delinsCAGGG
NR_148396.1:n.2397_2401delinsCAGGG
NR_148397.1:n.2522_2526delinsCAGGG
NR_148398.1:n.2477_2481delinsCAGGG
NR_148399.1:n.2827_2831delinsCAGGG
NR_148400.1:n.2602_2606delinsCAGGG
XM_005272162.3:c.244_248delinsCAGGG	XP_005272219.1:n.244_248delinsCAGGG
XM_006716932.2:c.244_248delinsCAGGG	XP_006716995.1:n.244_248delinsCAGGG
XM_011518140.2:c.244_248delinsCAGGG	XP_011516442.1:n.244_248delinsCAGGG
XM_011518141.2:c.244_248delinsCAGGG	XP_011516443.1:n.244_248delinsCAGGG
XM_011518142.2:c.244_248delinsCAGGG	XP_011516444.1:n.244_248delinsCAGGG
XM_011518143.2:c.244_248delinsCAGGG	XP_011516445.1:n.244_248delinsCAGGG
XM_011518145.2:c.244_248delinsCAGGG	XP_011516447.1:n.244_248delinsCAGGG
XM_017014205.2:c.244_248delinsCAGGG	XP_016869694.1:n.244_248delinsCAGGG
XM_024447380.1:c.244_248delinsCAGGG	XP_024303148.1:n.244_248delinsCAGGG
XM_024447381.1:c.244_248delinsCAGGG	XP_024303149.1:n.244_248delinsCAGGG
XM_024447382.1:c.244_248delinsCAGGG	XP_024303150.1:n.244_248delinsCAGGG
XR_001746160.2:n.2416_2420delinsCAGGG
XR_001746162.2:n.2797_2801delinsCAGGG
XR_001746164.1:n.2514_2518delinsCAGGG
XR_001746166.2:n.2633_2637delinsCAGGG
NM_001077365.2:c.244_248delinsCAGGG MANE Select	NP_001070833.1:n.244_248delinsCAGGG
NM_001077366.2:c.244_248delinsCAGGG	NP_001070834.1:n.244_248delinsCAGGG
NM_001136113.2:c.244_248delinsCAGGG	NP_001129585.1:n.244_248delinsCAGGG
NM_001136114.2:c.244_248delinsCAGGG	NP_001129586.1:n.244_248delinsCAGGG
NM_001353193.2:c.244_248delinsCAGGG	NP_001340122.2:n.244_248delinsCAGGG
NM_001353194.2:c.244_248delinsCAGGG	NP_001340123.1:n.244_248delinsCAGGG
NM_001353195.2:c.244_248delinsCAGGG	NP_001340124.1:n.244_248delinsCAGGG
NM_001353196.2:c.244_248delinsCAGGG	NP_001340125.1:n.244_248delinsCAGGG
NM_001353197.2:c.244_248delinsCAGGG	NP_001340126.2:n.244_248delinsCAGGG
NM_001353198.2:c.244_248delinsCAGGG	NP_001340127.2:n.244_248delinsCAGGG
NM_001353199.2:c.244_248delinsCAGGG	NP_001340128.2:n.244_248delinsCAGGG
NM_001353200.2:c.244_248delinsCAGGG	NP_001340129.1:n.244_248delinsCAGGG
NM_001374689.1:c.244_248delinsCAGGG	NP_001361618.1:n.244_248delinsCAGGG
NM_001374690.1:c.244_248delinsCAGGG	NP_001361619.1:n.244_248delinsCAGGG
NM_001374691.1:c.244_248delinsCAGGG	NP_001361620.1:n.244_248delinsCAGGG
NM_001374692.1:c.244_248delinsCAGGG	NP_001361621.1:n.244_248delinsCAGGG
NM_001374693.1:c.244_248delinsCAGGG	NP_001361622.1:n.244_248delinsCAGGG
NM_001374695.1:c.244_248delinsCAGGG	NP_001361624.1:n.244_248delinsCAGGG
NM_007171.4:c.244_248delinsCAGGG	NP_009102.4:n.244_248delinsCAGGG
NR_148391.2:n.2280_2284delinsCAGGG
NR_148392.2:n.2498_2502delinsCAGGG
NR_148393.2:n.2595_2599delinsCAGGG
NR_148394.2:n.2349_2353delinsCAGGG
NR_148395.2:n.2747_2751delinsCAGGG
NR_148396.2:n.2381_2385delinsCAGGG
NR_148397.2:n.2506_2510delinsCAGGG
NR_148398.2:n.2461_2465delinsCAGGG
NR_148399.2:n.2811_2815delinsCAGGG
NR_148400.2:n.2586_2590delinsCAGGG

HGVS	Amino-acid Change
ENST00000341012.13:c.244_248delinsCAGGG	ENSP00000343034.7:n.244_248delinsCAGGG
ENST00000404875.7:n.2962_2966delinsCAGGG
ENST00000677295.2:c.2766_2770delinsCAGGG	ENSP00000504346.2:n.2766_2770delinsCAGGG
ENST00000678264.2:c.2605_2609delinsCAGGG	ENSP00000503157.2:n.2605_2609delinsCAGGG
ENST00000682070.1:n.2732_2736delinsCAGGG
ENST00000682639.1:c.240-113_240-109delinsCAGGG
ENST00000682813.1:n.2819_2823delinsCAGGG
ENST00000683231.1:c.272_276delinsCAGGG
ENST00000683392.1:n.5014_5018delinsCAGGG
ENST00000683900.1:n.4322_4326delinsCAGGG
ENST00000684062.1:n.3088_3092delinsCAGGG
ENST00000684399.1:c.240-3_241delinsCAGGG
ENST00000684579.1:n.4268_4272delinsCAGGG
ENST00000341012.12:c.244_248delinsCAGGG	ENSP00000343034.7:n.244_248delinsCAGGG
ENST00000372220.5:c.244_248delinsCAGGG	ENSP00000361294.5:n.244_248delinsCAGGG
ENST00000372228.9:c.244_248delinsCAGGG	ENSP00000361302.3:n.244_248delinsCAGGG
ENST00000402686.8:c.244_248delinsCAGGG MANE Select	ENSP00000385797.4:n.244_248delinsCAGGG
ENST00000676640.1:c.244_248delinsCAGGG	ENSP00000503281.1:n.244_248delinsCAGGG
ENST00000676803.1:c.244_248delinsCAGGG	ENSP00000503093.1:n.244_248delinsCAGGG
ENST00000676835.1:c.1637_1641delinsCAGGG	ENSP00000502911.1:n.1637_1641delinsCAGGG
ENST00000677029.1:c.244_248delinsCAGGG	ENSP00000502936.1:n.244_248delinsCAGGG
ENST00000677099.1:c.2132_2136delinsCAGGG	ENSP00000504553.1:n.2132_2136delinsCAGGG
ENST00000677216.1:c.244_248delinsCAGGG	ENSP00000503772.1:n.244_248delinsCAGGG
ENST00000677295.1:c.1644_1648delinsCAGGG	ENSP00000504346.1:n.1644_1648delinsCAGGG
ENST00000677444.1:c.2367_2371delinsCAGGG
ENST00000677626.1:c.244_248delinsCAGGG	ENSP00000503552.1:n.244_248delinsCAGGG
ENST00000677853.1:c.1430_1434delinsCAGGG	ENSP00000503488.1:n.1430_1434delinsCAGGG
ENST00000678303.1:c.244_248delinsCAGGG	ENSP00000503696.1:n.244_248delinsCAGGG
ENST00000678366.1:c.2671_2675delinsCAGGG	ENSP00000504353.1:n.2671_2675delinsCAGGG
ENST00000678546.1:c.2367_2371delinsCAGGG	ENSP00000503062.1:n.2367_2371delinsCAGGG
ENST00000678548.1:c.2561_2565delinsCAGGG	ENSP00000503934.1:n.2561_2565delinsCAGGG
ENST00000678626.1:n.2258_2262delinsCAGGG
ENST00000678739.1:c.2588_2592delinsCAGGG	ENSP00000503806.1:n.2588_2592delinsCAGGG
ENST00000678833.1:c.2174_2178delinsCAGGG	ENSP00000503893.1:n.2174_2178delinsCAGGG
ENST00000679023.1:c.68_72delinsCAGGG	ENSP00000503718.1:n.68_72delinsCAGGG
ENST00000679076.1:c.2041_2045delinsCAGGG
ENST00000679111.1:c.1178_1182delinsCAGGG	ENSP00000504257.1:n.1178_1182delinsCAGGG
ENST00000341012.11:c.244_248delinsCAGGG	ENSP00000343034.7:n.244_248delinsCAGGG
ENST00000372220.4:c.1285_1289delinsCAGGG	ENSP00000361294.4:n.1285_1289delinsCAGGG
ENST00000372228.7:c.244_248delinsCAGGG	ENSP00000361302.3:n.244_248delinsCAGGG
ENST00000402686.7:c.244_248delinsCAGGG	ENSP00000385797.3:n.244_248delinsCAGGG
ENST00000404875.6:c.244_248delinsCAGGG	ENSP00000384531.2:n.244_248delinsCAGGG
ENST00000423007.5:c.244_248delinsCAGGG	ENSP00000404119.1:n.244_248delinsCAGGG
ENST00000485278.5:n.2972_2976delinsCAGGG
NM_001077365.1:c.244_248delinsCAGGG	NP_001070833.1:n.244_248delinsCAGGG
NM_001077366.1:c.244_248delinsCAGGG	NP_001070834.1:n.244_248delinsCAGGG
NM_001136113.1:c.244_248delinsCAGGG	NP_001129585.1:n.244_248delinsCAGGG
NM_001136114.1:c.244_248delinsCAGGG	NP_001129586.1:n.244_248delinsCAGGG
NM_007171.3:c.244_248delinsCAGGG	NP_009102.3:n.244_248delinsCAGGG
XM_005272156.1:c.244_248delinsCAGGG	XP_005272213.1:n.244_248delinsCAGGG
XM_005272158.1:c.244_248delinsCAGGG	XP_005272215.1:n.244_248delinsCAGGG
XM_005272159.1:c.244_248delinsCAGGG	XP_005272216.1:n.244_248delinsCAGGG
XM_005272162.1:c.244_248delinsCAGGG	XP_005272219.1:n.244_248delinsCAGGG
XM_006716932.1:c.244_248delinsCAGGG	XP_006716995.1:n.244_248delinsCAGGG
XM_011518140.1:c.244_248delinsCAGGG	XP_011516442.1:n.244_248delinsCAGGG
XM_011518141.1:c.244_248delinsCAGGG	XP_011516443.1:n.244_248delinsCAGGG
XM_011518142.1:c.244_248delinsCAGGG	XP_011516444.1:n.244_248delinsCAGGG
XM_011518143.1:c.244_248delinsCAGGG	XP_011516445.1:n.244_248delinsCAGGG
XM_011518145.1:c.244_248delinsCAGGG	XP_011516447.1:n.244_248delinsCAGGG
XM_011518147.1:c.244_248delinsCAGGG	XP_011516449.1:n.244_248delinsCAGGG
XR_929703.1:n.2488_2492delinsCAGGG
NM_001353193.1:c.244_248delinsCAGGG	NP_001340122.1:n.244_248delinsCAGGG
NM_001353194.1:c.244_248delinsCAGGG	NP_001340123.1:n.244_248delinsCAGGG
NM_001353195.1:c.244_248delinsCAGGG	NP_001340124.1:n.244_248delinsCAGGG
NM_001353196.1:c.244_248delinsCAGGG	NP_001340125.1:n.244_248delinsCAGGG
NM_001353197.1:c.244_248delinsCAGGG	NP_001340126.1:n.244_248delinsCAGGG
NM_001353198.1:c.244_248delinsCAGGG	NP_001340127.1:n.244_248delinsCAGGG
NM_001353199.1:c.244_248delinsCAGGG	NP_001340128.1:n.244_248delinsCAGGG
NM_001353200.1:c.244_248delinsCAGGG	NP_001340129.1:n.244_248delinsCAGGG
NR_148391.1:n.2296_2300delinsCAGGG
NR_148392.1:n.2514_2518delinsCAGGG
NR_148393.1:n.2611_2615delinsCAGGG
NR_148394.1:n.2365_2369delinsCAGGG
NR_148395.1:n.2763_2767delinsCAGGG
NR_148396.1:n.2397_2401delinsCAGGG
NR_148397.1:n.2522_2526delinsCAGGG
NR_148398.1:n.2477_2481delinsCAGGG
NR_148399.1:n.2827_2831delinsCAGGG
NR_148400.1:n.2602_2606delinsCAGGG
XM_005272162.3:c.244_248delinsCAGGG	XP_005272219.1:n.244_248delinsCAGGG
XM_006716932.2:c.244_248delinsCAGGG	XP_006716995.1:n.244_248delinsCAGGG
XM_011518140.2:c.244_248delinsCAGGG	XP_011516442.1:n.244_248delinsCAGGG
XM_011518141.2:c.244_248delinsCAGGG	XP_011516443.1:n.244_248delinsCAGGG
XM_011518142.2:c.244_248delinsCAGGG	XP_011516444.1:n.244_248delinsCAGGG
XM_011518143.2:c.244_248delinsCAGGG	XP_011516445.1:n.244_248delinsCAGGG
XM_011518145.2:c.244_248delinsCAGGG	XP_011516447.1:n.244_248delinsCAGGG
XM_017014205.2:c.244_248delinsCAGGG	XP_016869694.1:n.244_248delinsCAGGG
XM_024447380.1:c.244_248delinsCAGGG	XP_024303148.1:n.244_248delinsCAGGG
XM_024447381.1:c.244_248delinsCAGGG	XP_024303149.1:n.244_248delinsCAGGG
XM_024447382.1:c.244_248delinsCAGGG	XP_024303150.1:n.244_248delinsCAGGG
XR_001746160.2:n.2416_2420delinsCAGGG
XR_001746162.2:n.2797_2801delinsCAGGG
XR_001746164.1:n.2514_2518delinsCAGGG
XR_001746166.2:n.2633_2637delinsCAGGG
NM_001077365.2:c.244_248delinsCAGGG MANE Select	NP_001070833.1:n.244_248delinsCAGGG
NM_001077366.2:c.244_248delinsCAGGG	NP_001070834.1:n.244_248delinsCAGGG
NM_001136113.2:c.244_248delinsCAGGG	NP_001129585.1:n.244_248delinsCAGGG
NM_001136114.2:c.244_248delinsCAGGG	NP_001129586.1:n.244_248delinsCAGGG
NM_001353193.2:c.244_248delinsCAGGG	NP_001340122.2:n.244_248delinsCAGGG
NM_001353194.2:c.244_248delinsCAGGG	NP_001340123.1:n.244_248delinsCAGGG
NM_001353195.2:c.244_248delinsCAGGG	NP_001340124.1:n.244_248delinsCAGGG
NM_001353196.2:c.244_248delinsCAGGG	NP_001340125.1:n.244_248delinsCAGGG
NM_001353197.2:c.244_248delinsCAGGG	NP_001340126.2:n.244_248delinsCAGGG
NM_001353198.2:c.244_248delinsCAGGG	NP_001340127.2:n.244_248delinsCAGGG
NM_001353199.2:c.244_248delinsCAGGG	NP_001340128.2:n.244_248delinsCAGGG
NM_001353200.2:c.244_248delinsCAGGG	NP_001340129.1:n.244_248delinsCAGGG
NM_001374689.1:c.244_248delinsCAGGG	NP_001361618.1:n.244_248delinsCAGGG
NM_001374690.1:c.244_248delinsCAGGG	NP_001361619.1:n.244_248delinsCAGGG
NM_001374691.1:c.244_248delinsCAGGG	NP_001361620.1:n.244_248delinsCAGGG
NM_001374692.1:c.244_248delinsCAGGG	NP_001361621.1:n.244_248delinsCAGGG
NM_001374693.1:c.244_248delinsCAGGG	NP_001361622.1:n.244_248delinsCAGGG
NM_001374695.1:c.244_248delinsCAGGG	NP_001361624.1:n.244_248delinsCAGGG
NM_007171.4:c.244_248delinsCAGGG	NP_009102.4:n.244_248delinsCAGGG
NR_148391.2:n.2280_2284delinsCAGGG
NR_148392.2:n.2498_2502delinsCAGGG
NR_148393.2:n.2595_2599delinsCAGGG
NR_148394.2:n.2349_2353delinsCAGGG
NR_148395.2:n.2747_2751delinsCAGGG
NR_148396.2:n.2381_2385delinsCAGGG
NR_148397.2:n.2506_2510delinsCAGGG
NR_148398.2:n.2461_2465delinsCAGGG
NR_148399.2:n.2811_2815delinsCAGGG
NR_148400.2:n.2586_2590delinsCAGGG