Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523161_131523163del , CM000671.2:g.131523161_131523163del	GRCh38
NC_000009.11:g.134398548_134398550del , CM000671.1:g.134398548_134398550del	GRCh37
NC_000009.10:g.133388369_133388371del	NCBI36
NG_008896.1:g.25260_25262del
NG_008896.2:g.25260_25262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.55_57del	ENSP00000343034.7:n.55_57del
ENST00000404875.7:n.2773_2775del
ENST00000677295.2:c.2577_2579del	ENSP00000504346.2:n.2577_2579del
ENST00000678264.2:c.2416_2418del	ENSP00000503157.2:n.2416_2418del
ENST00000682070.1:n.2543_2545del
ENST00000682639.1:c.230_232del
ENST00000682813.1:n.2630_2632del
ENST00000683231.1:c.230_232del
ENST00000683392.1:n.4825_4827del
ENST00000683900.1:n.4133_4135del
ENST00000684062.1:n.2899_2901del
ENST00000684399.1:c.230_232del
ENST00000684579.1:n.4079_4081del
ENST00000341012.12:c.55_57del	ENSP00000343034.7:n.55_57del
ENST00000372220.5:c.55_57del	ENSP00000361294.5:n.55_57del
ENST00000372228.9:c.55_57del	ENSP00000361302.3:n.55_57del
ENST00000402686.8:c.55_57del MANE Select	ENSP00000385797.4:n.55_57del
ENST00000676640.1:c.55_57del	ENSP00000503281.1:n.55_57del
ENST00000676803.1:c.55_57del	ENSP00000503093.1:n.55_57del
ENST00000676835.1:c.1448_1450del	ENSP00000502911.1:n.1448_1450del
ENST00000677029.1:c.55_57del	ENSP00000502936.1:n.55_57del
ENST00000677099.1:c.1943_1945del	ENSP00000504553.1:n.1943_1945del
ENST00000677216.1:c.55_57del	ENSP00000503772.1:n.55_57del
ENST00000677295.1:c.1455_1457del	ENSP00000504346.1:n.1455_1457del
ENST00000677444.1:c.2178_2180del
ENST00000677626.1:c.55_57del	ENSP00000503552.1:n.55_57del
ENST00000677853.1:c.1241_1243del	ENSP00000503488.1:n.1241_1243del
ENST00000678303.1:c.55_57del	ENSP00000503696.1:n.55_57del
ENST00000678366.1:c.2482_2484del	ENSP00000504353.1:n.2482_2484del
ENST00000678546.1:c.2178_2180del	ENSP00000503062.1:n.2178_2180del
ENST00000678548.1:c.2372_2374del	ENSP00000503934.1:n.2372_2374del
ENST00000678626.1:n.2069_2071del
ENST00000678739.1:c.2399_2401del	ENSP00000503806.1:n.2399_2401del
ENST00000678833.1:c.1985_1987del	ENSP00000503893.1:n.1985_1987del
ENST00000679023.1:c.55_57del	ENSP00000503718.1:n.55_57del
ENST00000679076.1:c.1852_1854del
ENST00000679111.1:c.989_991del	ENSP00000504257.1:n.989_991del
ENST00000679189.1:c.55_57del	ENSP00000503356.1:n.55_57del
ENST00000341012.11:c.55_57del	ENSP00000343034.7:n.55_57del
ENST00000372220.4:c.1096_1098del	ENSP00000361294.4:n.1096_1098del
ENST00000372228.7:c.55_57del	ENSP00000361302.3:n.55_57del
ENST00000402686.7:c.55_57del	ENSP00000385797.3:n.55_57del
ENST00000404875.6:c.55_57del	ENSP00000384531.2:n.55_57del
ENST00000423007.5:c.55_57del	ENSP00000404119.1:n.55_57del
ENST00000485278.5:n.2783_2785del
NM_001077365.1:c.55_57del	NP_001070833.1:n.55_57del
NM_001077366.1:c.55_57del	NP_001070834.1:n.55_57del
NM_001136113.1:c.55_57del	NP_001129585.1:n.55_57del
NM_001136114.1:c.55_57del	NP_001129586.1:n.55_57del
NM_007171.3:c.55_57del	NP_009102.3:n.55_57del
XM_005272156.1:c.55_57del	XP_005272213.1:n.55_57del
XM_005272158.1:c.55_57del	XP_005272215.1:n.55_57del
XM_005272159.1:c.55_57del	XP_005272216.1:n.55_57del
XM_005272162.1:c.55_57del	XP_005272219.1:n.55_57del
XM_006716932.1:c.55_57del	XP_006716995.1:n.55_57del
XM_011518140.1:c.55_57del	XP_011516442.1:n.55_57del
XM_011518141.1:c.55_57del	XP_011516443.1:n.55_57del
XM_011518142.1:c.55_57del	XP_011516444.1:n.55_57del
XM_011518143.1:c.55_57del	XP_011516445.1:n.55_57del
XM_011518145.1:c.55_57del	XP_011516447.1:n.55_57del
XM_011518147.1:c.55_57del	XP_011516449.1:n.55_57del
XR_929703.1:n.2475_2477del
NM_001353193.1:c.55_57del	NP_001340122.1:n.55_57del
NM_001353194.1:c.55_57del	NP_001340123.1:n.55_57del
NM_001353195.1:c.55_57del	NP_001340124.1:n.55_57del
NM_001353196.1:c.55_57del	NP_001340125.1:n.55_57del
NM_001353197.1:c.55_57del	NP_001340126.1:n.55_57del
NM_001353198.1:c.55_57del	NP_001340127.1:n.55_57del
NM_001353199.1:c.55_57del	NP_001340128.1:n.55_57del
NM_001353200.1:c.55_57del	NP_001340129.1:n.55_57del
NR_148391.1:n.2283_2285del
NR_148392.1:n.2501_2503del
NR_148393.1:n.2422_2424del
NR_148394.1:n.2176_2178del
NR_148395.1:n.2574_2576del
NR_148396.1:n.2208_2210del
NR_148397.1:n.2333_2335del
NR_148398.1:n.2288_2290del
NR_148399.1:n.2814_2816del
NR_148400.1:n.2413_2415del
XM_005272162.3:c.55_57del	XP_005272219.1:n.55_57del
XM_006716932.2:c.55_57del	XP_006716995.1:n.55_57del
XM_011518140.2:c.55_57del	XP_011516442.1:n.55_57del
XM_011518141.2:c.55_57del	XP_011516443.1:n.55_57del
XM_011518142.2:c.55_57del	XP_011516444.1:n.55_57del
XM_011518143.2:c.55_57del	XP_011516445.1:n.55_57del
XM_011518145.2:c.55_57del	XP_011516447.1:n.55_57del
XM_017014205.2:c.55_57del	XP_016869694.1:n.55_57del
XM_024447380.1:c.55_57del	XP_024303148.1:n.55_57del
XM_024447381.1:c.55_57del	XP_024303149.1:n.55_57del
XM_024447382.1:c.55_57del	XP_024303150.1:n.55_57del
XR_001746160.2:n.2403_2405del
XR_001746162.2:n.2608_2610del
XR_001746164.1:n.2325_2327del
XR_001746166.2:n.2620_2622del
NM_001077365.2:c.55_57del MANE Select	NP_001070833.1:n.55_57del
NM_001077366.2:c.55_57del	NP_001070834.1:n.55_57del
NM_001136113.2:c.55_57del	NP_001129585.1:n.55_57del
NM_001136114.2:c.55_57del	NP_001129586.1:n.55_57del
NM_001353193.2:c.55_57del	NP_001340122.2:n.55_57del
NM_001353194.2:c.55_57del	NP_001340123.1:n.55_57del
NM_001353195.2:c.55_57del	NP_001340124.1:n.55_57del
NM_001353196.2:c.55_57del	NP_001340125.1:n.55_57del
NM_001353197.2:c.55_57del	NP_001340126.2:n.55_57del
NM_001353198.2:c.55_57del	NP_001340127.2:n.55_57del
NM_001353199.2:c.55_57del	NP_001340128.2:n.55_57del
NM_001353200.2:c.55_57del	NP_001340129.1:n.55_57del
NM_001374689.1:c.55_57del	NP_001361618.1:n.55_57del
NM_001374690.1:c.55_57del	NP_001361619.1:n.55_57del
NM_001374691.1:c.55_57del	NP_001361620.1:n.55_57del
NM_001374692.1:c.55_57del	NP_001361621.1:n.55_57del
NM_001374693.1:c.55_57del	NP_001361622.1:n.55_57del
NM_001374695.1:c.55_57del	NP_001361624.1:n.55_57del
NM_007171.4:c.55_57del	NP_009102.4:n.55_57del
NR_148391.2:n.2267_2269del
NR_148392.2:n.2485_2487del
NR_148393.2:n.2406_2408del
NR_148394.2:n.2160_2162del
NR_148395.2:n.2558_2560del
NR_148396.2:n.2192_2194del
NR_148397.2:n.2317_2319del
NR_148398.2:n.2272_2274del
NR_148399.2:n.2798_2800del
NR_148400.2:n.2397_2399del

HGVS	Amino-acid Change
ENST00000341012.13:c.55_57del	ENSP00000343034.7:n.55_57del
ENST00000404875.7:n.2773_2775del
ENST00000677295.2:c.2577_2579del	ENSP00000504346.2:n.2577_2579del
ENST00000678264.2:c.2416_2418del	ENSP00000503157.2:n.2416_2418del
ENST00000682070.1:n.2543_2545del
ENST00000682639.1:c.230_232del
ENST00000682813.1:n.2630_2632del
ENST00000683231.1:c.230_232del
ENST00000683392.1:n.4825_4827del
ENST00000683900.1:n.4133_4135del
ENST00000684062.1:n.2899_2901del
ENST00000684399.1:c.230_232del
ENST00000684579.1:n.4079_4081del
ENST00000341012.12:c.55_57del	ENSP00000343034.7:n.55_57del
ENST00000372220.5:c.55_57del	ENSP00000361294.5:n.55_57del
ENST00000372228.9:c.55_57del	ENSP00000361302.3:n.55_57del
ENST00000402686.8:c.55_57del MANE Select	ENSP00000385797.4:n.55_57del
ENST00000676640.1:c.55_57del	ENSP00000503281.1:n.55_57del
ENST00000676803.1:c.55_57del	ENSP00000503093.1:n.55_57del
ENST00000676835.1:c.1448_1450del	ENSP00000502911.1:n.1448_1450del
ENST00000677029.1:c.55_57del	ENSP00000502936.1:n.55_57del
ENST00000677099.1:c.1943_1945del	ENSP00000504553.1:n.1943_1945del
ENST00000677216.1:c.55_57del	ENSP00000503772.1:n.55_57del
ENST00000677295.1:c.1455_1457del	ENSP00000504346.1:n.1455_1457del
ENST00000677444.1:c.2178_2180del
ENST00000677626.1:c.55_57del	ENSP00000503552.1:n.55_57del
ENST00000677853.1:c.1241_1243del	ENSP00000503488.1:n.1241_1243del
ENST00000678303.1:c.55_57del	ENSP00000503696.1:n.55_57del
ENST00000678366.1:c.2482_2484del	ENSP00000504353.1:n.2482_2484del
ENST00000678546.1:c.2178_2180del	ENSP00000503062.1:n.2178_2180del
ENST00000678548.1:c.2372_2374del	ENSP00000503934.1:n.2372_2374del
ENST00000678626.1:n.2069_2071del
ENST00000678739.1:c.2399_2401del	ENSP00000503806.1:n.2399_2401del
ENST00000678833.1:c.1985_1987del	ENSP00000503893.1:n.1985_1987del
ENST00000679023.1:c.55_57del	ENSP00000503718.1:n.55_57del
ENST00000679076.1:c.1852_1854del
ENST00000679111.1:c.989_991del	ENSP00000504257.1:n.989_991del
ENST00000679189.1:c.55_57del	ENSP00000503356.1:n.55_57del
ENST00000341012.11:c.55_57del	ENSP00000343034.7:n.55_57del
ENST00000372220.4:c.1096_1098del	ENSP00000361294.4:n.1096_1098del
ENST00000372228.7:c.55_57del	ENSP00000361302.3:n.55_57del
ENST00000402686.7:c.55_57del	ENSP00000385797.3:n.55_57del
ENST00000404875.6:c.55_57del	ENSP00000384531.2:n.55_57del
ENST00000423007.5:c.55_57del	ENSP00000404119.1:n.55_57del
ENST00000485278.5:n.2783_2785del
NM_001077365.1:c.55_57del	NP_001070833.1:n.55_57del
NM_001077366.1:c.55_57del	NP_001070834.1:n.55_57del
NM_001136113.1:c.55_57del	NP_001129585.1:n.55_57del
NM_001136114.1:c.55_57del	NP_001129586.1:n.55_57del
NM_007171.3:c.55_57del	NP_009102.3:n.55_57del
XM_005272156.1:c.55_57del	XP_005272213.1:n.55_57del
XM_005272158.1:c.55_57del	XP_005272215.1:n.55_57del
XM_005272159.1:c.55_57del	XP_005272216.1:n.55_57del
XM_005272162.1:c.55_57del	XP_005272219.1:n.55_57del
XM_006716932.1:c.55_57del	XP_006716995.1:n.55_57del
XM_011518140.1:c.55_57del	XP_011516442.1:n.55_57del
XM_011518141.1:c.55_57del	XP_011516443.1:n.55_57del
XM_011518142.1:c.55_57del	XP_011516444.1:n.55_57del
XM_011518143.1:c.55_57del	XP_011516445.1:n.55_57del
XM_011518145.1:c.55_57del	XP_011516447.1:n.55_57del
XM_011518147.1:c.55_57del	XP_011516449.1:n.55_57del
XR_929703.1:n.2475_2477del
NM_001353193.1:c.55_57del	NP_001340122.1:n.55_57del
NM_001353194.1:c.55_57del	NP_001340123.1:n.55_57del
NM_001353195.1:c.55_57del	NP_001340124.1:n.55_57del
NM_001353196.1:c.55_57del	NP_001340125.1:n.55_57del
NM_001353197.1:c.55_57del	NP_001340126.1:n.55_57del
NM_001353198.1:c.55_57del	NP_001340127.1:n.55_57del
NM_001353199.1:c.55_57del	NP_001340128.1:n.55_57del
NM_001353200.1:c.55_57del	NP_001340129.1:n.55_57del
NR_148391.1:n.2283_2285del
NR_148392.1:n.2501_2503del
NR_148393.1:n.2422_2424del
NR_148394.1:n.2176_2178del
NR_148395.1:n.2574_2576del
NR_148396.1:n.2208_2210del
NR_148397.1:n.2333_2335del
NR_148398.1:n.2288_2290del
NR_148399.1:n.2814_2816del
NR_148400.1:n.2413_2415del
XM_005272162.3:c.55_57del	XP_005272219.1:n.55_57del
XM_006716932.2:c.55_57del	XP_006716995.1:n.55_57del
XM_011518140.2:c.55_57del	XP_011516442.1:n.55_57del
XM_011518141.2:c.55_57del	XP_011516443.1:n.55_57del
XM_011518142.2:c.55_57del	XP_011516444.1:n.55_57del
XM_011518143.2:c.55_57del	XP_011516445.1:n.55_57del
XM_011518145.2:c.55_57del	XP_011516447.1:n.55_57del
XM_017014205.2:c.55_57del	XP_016869694.1:n.55_57del
XM_024447380.1:c.55_57del	XP_024303148.1:n.55_57del
XM_024447381.1:c.55_57del	XP_024303149.1:n.55_57del
XM_024447382.1:c.55_57del	XP_024303150.1:n.55_57del
XR_001746160.2:n.2403_2405del
XR_001746162.2:n.2608_2610del
XR_001746164.1:n.2325_2327del
XR_001746166.2:n.2620_2622del
NM_001077365.2:c.55_57del MANE Select	NP_001070833.1:n.55_57del
NM_001077366.2:c.55_57del	NP_001070834.1:n.55_57del
NM_001136113.2:c.55_57del	NP_001129585.1:n.55_57del
NM_001136114.2:c.55_57del	NP_001129586.1:n.55_57del
NM_001353193.2:c.55_57del	NP_001340122.2:n.55_57del
NM_001353194.2:c.55_57del	NP_001340123.1:n.55_57del
NM_001353195.2:c.55_57del	NP_001340124.1:n.55_57del
NM_001353196.2:c.55_57del	NP_001340125.1:n.55_57del
NM_001353197.2:c.55_57del	NP_001340126.2:n.55_57del
NM_001353198.2:c.55_57del	NP_001340127.2:n.55_57del
NM_001353199.2:c.55_57del	NP_001340128.2:n.55_57del
NM_001353200.2:c.55_57del	NP_001340129.1:n.55_57del
NM_001374689.1:c.55_57del	NP_001361618.1:n.55_57del
NM_001374690.1:c.55_57del	NP_001361619.1:n.55_57del
NM_001374691.1:c.55_57del	NP_001361620.1:n.55_57del
NM_001374692.1:c.55_57del	NP_001361621.1:n.55_57del
NM_001374693.1:c.55_57del	NP_001361622.1:n.55_57del
NM_001374695.1:c.55_57del	NP_001361624.1:n.55_57del
NM_007171.4:c.55_57del	NP_009102.4:n.55_57del
NR_148391.2:n.2267_2269del
NR_148392.2:n.2485_2487del
NR_148393.2:n.2406_2408del
NR_148394.2:n.2160_2162del
NR_148395.2:n.2558_2560del
NR_148396.2:n.2192_2194del
NR_148397.2:n.2317_2319del
NR_148398.2:n.2272_2274del
NR_148399.2:n.2798_2800del
NR_148400.2:n.2397_2399del