Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523558_131523564del , CM000671.2:g.131523558_131523564del	GRCh38
NC_000009.11:g.134398945_134398951del , CM000671.1:g.134398945_134398951del	GRCh37
NC_000009.10:g.133388766_133388772del	NCBI36
NG_008896.1:g.25657_25663del
NG_008896.2:g.25657_25663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.452_458del	ENSP00000343034.7:n.452_458del
ENST00000404875.7:n.3170_3176del
ENST00000677295.2:c.2974_2980del	ENSP00000504346.2:n.2974_2980del
ENST00000678264.2:c.2813_2819del	ENSP00000503157.2:n.2813_2819del
ENST00000682070.1:n.2940_2946del
ENST00000682639.1:c.335_341del
ENST00000682813.1:n.3027_3033del
ENST00000683231.1:c.480_486del
ENST00000683392.1:n.5222_5228del
ENST00000683900.1:n.4530_4536del
ENST00000684062.1:n.3296_3302del
ENST00000684399.1:c.445_451del
ENST00000684579.1:n.4476_4482del
ENST00000341012.12:c.452_458del	ENSP00000343034.7:n.452_458del
ENST00000372228.9:c.452_458del	ENSP00000361302.3:n.452_458del
ENST00000402686.8:c.452_458del MANE Select	ENSP00000385797.4:n.452_458del
ENST00000676640.1:c.452_458del	ENSP00000503281.1:n.452_458del
ENST00000676803.1:c.452_458del	ENSP00000503093.1:n.452_458del
ENST00000676835.1:c.1845_1851del	ENSP00000502911.1:n.1845_1851del
ENST00000677295.1:c.1852_1858del	ENSP00000504346.1:n.1852_1858del
ENST00000677444.1:c.2575_2581del
ENST00000677626.1:c.452_458del	ENSP00000503552.1:n.452_458del
ENST00000677853.1:c.1638_1644del	ENSP00000503488.1:n.1638_1644del
ENST00000678546.1:c.2575_2581del	ENSP00000503062.1:n.2575_2581del
ENST00000678548.1:c.2769_2775del	ENSP00000503934.1:n.2769_2775del
ENST00000678626.1:n.2466_2472del
ENST00000678739.1:c.2796_2802del	ENSP00000503806.1:n.2796_2802del
ENST00000678833.1:c.2382_2388del	ENSP00000503893.1:n.2382_2388del
ENST00000679023.1:c.276_282del	ENSP00000503718.1:n.276_282del
ENST00000679076.1:c.2249_2255del
ENST00000679111.1:c.1386_1392del	ENSP00000504257.1:n.1386_1392del
ENST00000341012.11:c.452_458del	ENSP00000343034.7:n.452_458del
ENST00000372220.4:c.1493_1499del	ENSP00000361294.4:n.1493_1499del
ENST00000372228.7:c.452_458del	ENSP00000361302.3:n.452_458del
ENST00000402686.7:c.452_458del	ENSP00000385797.3:n.452_458del
ENST00000404875.6:c.452_458del	ENSP00000384531.2:n.452_458del
ENST00000423007.5:c.452_458del	ENSP00000404119.1:n.452_458del
ENST00000485278.5:n.3180_3186del
NM_001077365.1:c.452_458del	NP_001070833.1:n.452_458del
NM_001077366.1:c.452_458del	NP_001070834.1:n.452_458del
NM_001136113.1:c.452_458del	NP_001129585.1:n.452_458del
NM_001136114.1:c.452_458del	NP_001129586.1:n.452_458del
NM_007171.3:c.452_458del	NP_009102.3:n.452_458del
XM_005272156.1:c.452_458del	XP_005272213.1:n.452_458del
XM_005272158.1:c.452_458del	XP_005272215.1:n.452_458del
XM_005272159.1:c.452_458del	XP_005272216.1:n.452_458del
XM_005272162.1:c.452_458del	XP_005272219.1:n.452_458del
XM_006716932.1:c.452_458del	XP_006716995.1:n.452_458del
XM_011518140.1:c.452_458del	XP_011516442.1:n.452_458del
XM_011518141.1:c.452_458del	XP_011516443.1:n.452_458del
XM_011518142.1:c.452_458del	XP_011516444.1:n.452_458del
XM_011518143.1:c.452_458del	XP_011516445.1:n.452_458del
XM_011518145.1:c.452_458del	XP_011516447.1:n.452_458del
XM_011518147.1:c.452_458del	XP_011516449.1:n.452_458del
XR_929703.1:n.2696_2702del
NM_001353193.1:c.452_458del	NP_001340122.1:n.452_458del
NM_001353194.1:c.452_458del	NP_001340123.1:n.452_458del
NM_001353195.1:c.452_458del	NP_001340124.1:n.452_458del
NM_001353196.1:c.452_458del	NP_001340125.1:n.452_458del
NM_001353197.1:c.452_458del	NP_001340126.1:n.452_458del
NM_001353198.1:c.452_458del	NP_001340127.1:n.452_458del
NM_001353199.1:c.452_458del	NP_001340128.1:n.452_458del
NM_001353200.1:c.452_458del	NP_001340129.1:n.452_458del
NR_148391.1:n.2504_2510del
NR_148392.1:n.2722_2728del
NR_148393.1:n.2819_2825del
NR_148394.1:n.2573_2579del
NR_148395.1:n.2971_2977del
NR_148396.1:n.2605_2611del
NR_148397.1:n.2730_2736del
NR_148398.1:n.2685_2691del
NR_148399.1:n.3035_3041del
NR_148400.1:n.2810_2816del
XM_005272162.3:c.452_458del	XP_005272219.1:n.452_458del
XM_006716932.2:c.452_458del	XP_006716995.1:n.452_458del
XM_011518140.2:c.452_458del	XP_011516442.1:n.452_458del
XM_011518141.2:c.452_458del	XP_011516443.1:n.452_458del
XM_011518142.2:c.452_458del	XP_011516444.1:n.452_458del
XM_011518143.2:c.452_458del	XP_011516445.1:n.452_458del
XM_011518145.2:c.452_458del	XP_011516447.1:n.452_458del
XM_017014205.2:c.452_458del	XP_016869694.1:n.452_458del
XM_024447380.1:c.452_458del	XP_024303148.1:n.452_458del
XM_024447381.1:c.452_458del	XP_024303149.1:n.452_458del
XM_024447382.1:c.452_458del	XP_024303150.1:n.452_458del
XR_001746160.2:n.2624_2630del
XR_001746162.2:n.3005_3011del
XR_001746164.1:n.2722_2728del
XR_001746166.2:n.2841_2847del
NM_001077365.2:c.452_458del MANE Select	NP_001070833.1:n.452_458del
NM_001077366.2:c.452_458del	NP_001070834.1:n.452_458del
NM_001136113.2:c.452_458del	NP_001129585.1:n.452_458del
NM_001136114.2:c.452_458del	NP_001129586.1:n.452_458del
NM_001353193.2:c.452_458del	NP_001340122.2:n.452_458del
NM_001353194.2:c.452_458del	NP_001340123.1:n.452_458del
NM_001353195.2:c.452_458del	NP_001340124.1:n.452_458del
NM_001353196.2:c.452_458del	NP_001340125.1:n.452_458del
NM_001353197.2:c.452_458del	NP_001340126.2:n.452_458del
NM_001353198.2:c.452_458del	NP_001340127.2:n.452_458del
NM_001353199.2:c.452_458del	NP_001340128.2:n.452_458del
NM_001353200.2:c.452_458del	NP_001340129.1:n.452_458del
NM_001374689.1:c.452_458del	NP_001361618.1:n.452_458del
NM_001374690.1:c.452_458del	NP_001361619.1:n.452_458del
NM_001374691.1:c.452_458del	NP_001361620.1:n.452_458del
NM_001374692.1:c.452_458del	NP_001361621.1:n.452_458del
NM_001374693.1:c.452_458del	NP_001361622.1:n.452_458del
NM_001374695.1:c.452_458del	NP_001361624.1:n.452_458del
NM_007171.4:c.452_458del	NP_009102.4:n.452_458del
NR_148391.2:n.2488_2494del
NR_148392.2:n.2706_2712del
NR_148393.2:n.2803_2809del
NR_148394.2:n.2557_2563del
NR_148395.2:n.2955_2961del
NR_148396.2:n.2589_2595del
NR_148397.2:n.2714_2720del
NR_148398.2:n.2669_2675del
NR_148399.2:n.3019_3025del
NR_148400.2:n.2794_2800del

HGVS	Amino-acid Change
ENST00000341012.13:c.452_458del	ENSP00000343034.7:n.452_458del
ENST00000404875.7:n.3170_3176del
ENST00000677295.2:c.2974_2980del	ENSP00000504346.2:n.2974_2980del
ENST00000678264.2:c.2813_2819del	ENSP00000503157.2:n.2813_2819del
ENST00000682070.1:n.2940_2946del
ENST00000682639.1:c.335_341del
ENST00000682813.1:n.3027_3033del
ENST00000683231.1:c.480_486del
ENST00000683392.1:n.5222_5228del
ENST00000683900.1:n.4530_4536del
ENST00000684062.1:n.3296_3302del
ENST00000684399.1:c.445_451del
ENST00000684579.1:n.4476_4482del
ENST00000341012.12:c.452_458del	ENSP00000343034.7:n.452_458del
ENST00000372228.9:c.452_458del	ENSP00000361302.3:n.452_458del
ENST00000402686.8:c.452_458del MANE Select	ENSP00000385797.4:n.452_458del
ENST00000676640.1:c.452_458del	ENSP00000503281.1:n.452_458del
ENST00000676803.1:c.452_458del	ENSP00000503093.1:n.452_458del
ENST00000676835.1:c.1845_1851del	ENSP00000502911.1:n.1845_1851del
ENST00000677295.1:c.1852_1858del	ENSP00000504346.1:n.1852_1858del
ENST00000677444.1:c.2575_2581del
ENST00000677626.1:c.452_458del	ENSP00000503552.1:n.452_458del
ENST00000677853.1:c.1638_1644del	ENSP00000503488.1:n.1638_1644del
ENST00000678546.1:c.2575_2581del	ENSP00000503062.1:n.2575_2581del
ENST00000678548.1:c.2769_2775del	ENSP00000503934.1:n.2769_2775del
ENST00000678626.1:n.2466_2472del
ENST00000678739.1:c.2796_2802del	ENSP00000503806.1:n.2796_2802del
ENST00000678833.1:c.2382_2388del	ENSP00000503893.1:n.2382_2388del
ENST00000679023.1:c.276_282del	ENSP00000503718.1:n.276_282del
ENST00000679076.1:c.2249_2255del
ENST00000679111.1:c.1386_1392del	ENSP00000504257.1:n.1386_1392del
ENST00000341012.11:c.452_458del	ENSP00000343034.7:n.452_458del
ENST00000372220.4:c.1493_1499del	ENSP00000361294.4:n.1493_1499del
ENST00000372228.7:c.452_458del	ENSP00000361302.3:n.452_458del
ENST00000402686.7:c.452_458del	ENSP00000385797.3:n.452_458del
ENST00000404875.6:c.452_458del	ENSP00000384531.2:n.452_458del
ENST00000423007.5:c.452_458del	ENSP00000404119.1:n.452_458del
ENST00000485278.5:n.3180_3186del
NM_001077365.1:c.452_458del	NP_001070833.1:n.452_458del
NM_001077366.1:c.452_458del	NP_001070834.1:n.452_458del
NM_001136113.1:c.452_458del	NP_001129585.1:n.452_458del
NM_001136114.1:c.452_458del	NP_001129586.1:n.452_458del
NM_007171.3:c.452_458del	NP_009102.3:n.452_458del
XM_005272156.1:c.452_458del	XP_005272213.1:n.452_458del
XM_005272158.1:c.452_458del	XP_005272215.1:n.452_458del
XM_005272159.1:c.452_458del	XP_005272216.1:n.452_458del
XM_005272162.1:c.452_458del	XP_005272219.1:n.452_458del
XM_006716932.1:c.452_458del	XP_006716995.1:n.452_458del
XM_011518140.1:c.452_458del	XP_011516442.1:n.452_458del
XM_011518141.1:c.452_458del	XP_011516443.1:n.452_458del
XM_011518142.1:c.452_458del	XP_011516444.1:n.452_458del
XM_011518143.1:c.452_458del	XP_011516445.1:n.452_458del
XM_011518145.1:c.452_458del	XP_011516447.1:n.452_458del
XM_011518147.1:c.452_458del	XP_011516449.1:n.452_458del
XR_929703.1:n.2696_2702del
NM_001353193.1:c.452_458del	NP_001340122.1:n.452_458del
NM_001353194.1:c.452_458del	NP_001340123.1:n.452_458del
NM_001353195.1:c.452_458del	NP_001340124.1:n.452_458del
NM_001353196.1:c.452_458del	NP_001340125.1:n.452_458del
NM_001353197.1:c.452_458del	NP_001340126.1:n.452_458del
NM_001353198.1:c.452_458del	NP_001340127.1:n.452_458del
NM_001353199.1:c.452_458del	NP_001340128.1:n.452_458del
NM_001353200.1:c.452_458del	NP_001340129.1:n.452_458del
NR_148391.1:n.2504_2510del
NR_148392.1:n.2722_2728del
NR_148393.1:n.2819_2825del
NR_148394.1:n.2573_2579del
NR_148395.1:n.2971_2977del
NR_148396.1:n.2605_2611del
NR_148397.1:n.2730_2736del
NR_148398.1:n.2685_2691del
NR_148399.1:n.3035_3041del
NR_148400.1:n.2810_2816del
XM_005272162.3:c.452_458del	XP_005272219.1:n.452_458del
XM_006716932.2:c.452_458del	XP_006716995.1:n.452_458del
XM_011518140.2:c.452_458del	XP_011516442.1:n.452_458del
XM_011518141.2:c.452_458del	XP_011516443.1:n.452_458del
XM_011518142.2:c.452_458del	XP_011516444.1:n.452_458del
XM_011518143.2:c.452_458del	XP_011516445.1:n.452_458del
XM_011518145.2:c.452_458del	XP_011516447.1:n.452_458del
XM_017014205.2:c.452_458del	XP_016869694.1:n.452_458del
XM_024447380.1:c.452_458del	XP_024303148.1:n.452_458del
XM_024447381.1:c.452_458del	XP_024303149.1:n.452_458del
XM_024447382.1:c.452_458del	XP_024303150.1:n.452_458del
XR_001746160.2:n.2624_2630del
XR_001746162.2:n.3005_3011del
XR_001746164.1:n.2722_2728del
XR_001746166.2:n.2841_2847del
NM_001077365.2:c.452_458del MANE Select	NP_001070833.1:n.452_458del
NM_001077366.2:c.452_458del	NP_001070834.1:n.452_458del
NM_001136113.2:c.452_458del	NP_001129585.1:n.452_458del
NM_001136114.2:c.452_458del	NP_001129586.1:n.452_458del
NM_001353193.2:c.452_458del	NP_001340122.2:n.452_458del
NM_001353194.2:c.452_458del	NP_001340123.1:n.452_458del
NM_001353195.2:c.452_458del	NP_001340124.1:n.452_458del
NM_001353196.2:c.452_458del	NP_001340125.1:n.452_458del
NM_001353197.2:c.452_458del	NP_001340126.2:n.452_458del
NM_001353198.2:c.452_458del	NP_001340127.2:n.452_458del
NM_001353199.2:c.452_458del	NP_001340128.2:n.452_458del
NM_001353200.2:c.452_458del	NP_001340129.1:n.452_458del
NM_001374689.1:c.452_458del	NP_001361618.1:n.452_458del
NM_001374690.1:c.452_458del	NP_001361619.1:n.452_458del
NM_001374691.1:c.452_458del	NP_001361620.1:n.452_458del
NM_001374692.1:c.452_458del	NP_001361621.1:n.452_458del
NM_001374693.1:c.452_458del	NP_001361622.1:n.452_458del
NM_001374695.1:c.452_458del	NP_001361624.1:n.452_458del
NM_007171.4:c.452_458del	NP_009102.4:n.452_458del
NR_148391.2:n.2488_2494del
NR_148392.2:n.2706_2712del
NR_148393.2:n.2803_2809del
NR_148394.2:n.2557_2563del
NR_148395.2:n.2955_2961del
NR_148396.2:n.2589_2595del
NR_148397.2:n.2714_2720del
NR_148398.2:n.2669_2675del
NR_148399.2:n.3019_3025del
NR_148400.2:n.2794_2800del

Linked Data

Genomic Alleles

Transcript Alleles