Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523151_131523152delinsGT , CM000671.2:g.131523151_131523152delinsGT	GRCh38
NC_000009.11:g.134398538_134398539delinsGT , CM000671.1:g.134398538_134398539delinsGT	GRCh37
NC_000009.10:g.133388359_133388360delinsGT	NCBI36
NG_008896.1:g.25250_25251delinsGT
NG_008896.2:g.25250_25251delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.45_46delinsGT	ENSP00000343034.7:n.45_46delinsGT
ENST00000404875.7:n.2763_2764delinsGT
ENST00000677295.2:c.2567_2568delinsGT	ENSP00000504346.2:n.2567_2568delinsGT
ENST00000678264.2:c.2406_2407delinsGT	ENSP00000503157.2:n.2406_2407delinsGT
ENST00000682070.1:n.2533_2534delinsGT
ENST00000682639.1:c.220_221delinsGT
ENST00000682813.1:n.2620_2621delinsGT
ENST00000683231.1:c.220_221delinsGT
ENST00000683392.1:n.4815_4816delinsGT
ENST00000683900.1:n.4123_4124delinsGT
ENST00000684062.1:n.2889_2890delinsGT
ENST00000684399.1:c.220_221delinsGT
ENST00000684579.1:n.4069_4070delinsGT
ENST00000341012.12:c.45_46delinsGT	ENSP00000343034.7:n.45_46delinsGT
ENST00000372220.5:c.45_46delinsGT	ENSP00000361294.5:n.45_46delinsGT
ENST00000372228.9:c.45_46delinsGT	ENSP00000361302.3:n.45_46delinsGT
ENST00000402686.8:c.45_46delinsGT MANE Select	ENSP00000385797.4:n.45_46delinsGT
ENST00000676640.1:c.45_46delinsGT	ENSP00000503281.1:n.45_46delinsGT
ENST00000676803.1:c.45_46delinsGT	ENSP00000503093.1:n.45_46delinsGT
ENST00000676835.1:c.1438_1439delinsGT	ENSP00000502911.1:n.1438_1439delinsGT
ENST00000677029.1:c.45_46delinsGT	ENSP00000502936.1:n.45_46delinsGT
ENST00000677099.1:c.1933_1934delinsGT	ENSP00000504553.1:n.1933_1934delinsGT
ENST00000677216.1:c.45_46delinsGT	ENSP00000503772.1:n.45_46delinsGT
ENST00000677295.1:c.1445_1446delinsGT	ENSP00000504346.1:n.1445_1446delinsGT
ENST00000677444.1:c.2168_2169delinsGT
ENST00000677626.1:c.45_46delinsGT	ENSP00000503552.1:n.45_46delinsGT
ENST00000677853.1:c.1231_1232delinsGT	ENSP00000503488.1:n.1231_1232delinsGT
ENST00000678303.1:c.45_46delinsGT	ENSP00000503696.1:n.45_46delinsGT
ENST00000678366.1:c.2472_2473delinsGT	ENSP00000504353.1:n.2472_2473delinsGT
ENST00000678546.1:c.2168_2169delinsGT	ENSP00000503062.1:n.2168_2169delinsGT
ENST00000678548.1:c.2362_2363delinsGT	ENSP00000503934.1:n.2362_2363delinsGT
ENST00000678626.1:n.2059_2060delinsGT
ENST00000678739.1:c.2389_2390delinsGT	ENSP00000503806.1:n.2389_2390delinsGT
ENST00000678833.1:c.1975_1976delinsGT	ENSP00000503893.1:n.1975_1976delinsGT
ENST00000679023.1:c.45_46delinsGT	ENSP00000503718.1:n.45_46delinsGT
ENST00000679076.1:c.1842_1843delinsGT
ENST00000679111.1:c.979_980delinsGT	ENSP00000504257.1:n.979_980delinsGT
ENST00000679189.1:c.45_46delinsGT	ENSP00000503356.1:n.45_46delinsGT
ENST00000341012.11:c.45_46delinsGT	ENSP00000343034.7:n.45_46delinsGT
ENST00000372220.4:c.1086_1087delinsGT	ENSP00000361294.4:n.1086_1087delinsGT
ENST00000372228.7:c.45_46delinsGT	ENSP00000361302.3:n.45_46delinsGT
ENST00000402686.7:c.45_46delinsGT	ENSP00000385797.3:n.45_46delinsGT
ENST00000404875.6:c.45_46delinsGT	ENSP00000384531.2:n.45_46delinsGT
ENST00000423007.5:c.45_46delinsGT	ENSP00000404119.1:n.45_46delinsGT
ENST00000485278.5:n.2773_2774delinsGT
NM_001077365.1:c.45_46delinsGT	NP_001070833.1:n.45_46delinsGT
NM_001077366.1:c.45_46delinsGT	NP_001070834.1:n.45_46delinsGT
NM_001136113.1:c.45_46delinsGT	NP_001129585.1:n.45_46delinsGT
NM_001136114.1:c.45_46delinsGT	NP_001129586.1:n.45_46delinsGT
NM_007171.3:c.45_46delinsGT	NP_009102.3:n.45_46delinsGT
XM_005272156.1:c.45_46delinsGT	XP_005272213.1:n.45_46delinsGT
XM_005272158.1:c.45_46delinsGT	XP_005272215.1:n.45_46delinsGT
XM_005272159.1:c.45_46delinsGT	XP_005272216.1:n.45_46delinsGT
XM_005272162.1:c.45_46delinsGT	XP_005272219.1:n.45_46delinsGT
XM_006716932.1:c.45_46delinsGT	XP_006716995.1:n.45_46delinsGT
XM_011518140.1:c.45_46delinsGT	XP_011516442.1:n.45_46delinsGT
XM_011518141.1:c.45_46delinsGT	XP_011516443.1:n.45_46delinsGT
XM_011518142.1:c.45_46delinsGT	XP_011516444.1:n.45_46delinsGT
XM_011518143.1:c.45_46delinsGT	XP_011516445.1:n.45_46delinsGT
XM_011518145.1:c.45_46delinsGT	XP_011516447.1:n.45_46delinsGT
XM_011518147.1:c.45_46delinsGT	XP_011516449.1:n.45_46delinsGT
XR_929703.1:n.2465_2466delinsGT
NM_001353193.1:c.45_46delinsGT	NP_001340122.1:n.45_46delinsGT
NM_001353194.1:c.45_46delinsGT	NP_001340123.1:n.45_46delinsGT
NM_001353195.1:c.45_46delinsGT	NP_001340124.1:n.45_46delinsGT
NM_001353196.1:c.45_46delinsGT	NP_001340125.1:n.45_46delinsGT
NM_001353197.1:c.45_46delinsGT	NP_001340126.1:n.45_46delinsGT
NM_001353198.1:c.45_46delinsGT	NP_001340127.1:n.45_46delinsGT
NM_001353199.1:c.45_46delinsGT	NP_001340128.1:n.45_46delinsGT
NM_001353200.1:c.45_46delinsGT	NP_001340129.1:n.45_46delinsGT
NR_148391.1:n.2273_2274delinsGT
NR_148392.1:n.2491_2492delinsGT
NR_148393.1:n.2412_2413delinsGT
NR_148394.1:n.2166_2167delinsGT
NR_148395.1:n.2564_2565delinsGT
NR_148396.1:n.2198_2199delinsGT
NR_148397.1:n.2323_2324delinsGT
NR_148398.1:n.2278_2279delinsGT
NR_148399.1:n.2804_2805delinsGT
NR_148400.1:n.2403_2404delinsGT
XM_005272162.3:c.45_46delinsGT	XP_005272219.1:n.45_46delinsGT
XM_006716932.2:c.45_46delinsGT	XP_006716995.1:n.45_46delinsGT
XM_011518140.2:c.45_46delinsGT	XP_011516442.1:n.45_46delinsGT
XM_011518141.2:c.45_46delinsGT	XP_011516443.1:n.45_46delinsGT
XM_011518142.2:c.45_46delinsGT	XP_011516444.1:n.45_46delinsGT
XM_011518143.2:c.45_46delinsGT	XP_011516445.1:n.45_46delinsGT
XM_011518145.2:c.45_46delinsGT	XP_011516447.1:n.45_46delinsGT
XM_017014205.2:c.45_46delinsGT	XP_016869694.1:n.45_46delinsGT
XM_024447380.1:c.45_46delinsGT	XP_024303148.1:n.45_46delinsGT
XM_024447381.1:c.45_46delinsGT	XP_024303149.1:n.45_46delinsGT
XM_024447382.1:c.45_46delinsGT	XP_024303150.1:n.45_46delinsGT
XR_001746160.2:n.2393_2394delinsGT
XR_001746162.2:n.2598_2599delinsGT
XR_001746164.1:n.2315_2316delinsGT
XR_001746166.2:n.2610_2611delinsGT
NM_001077365.2:c.45_46delinsGT MANE Select	NP_001070833.1:n.45_46delinsGT
NM_001077366.2:c.45_46delinsGT	NP_001070834.1:n.45_46delinsGT
NM_001136113.2:c.45_46delinsGT	NP_001129585.1:n.45_46delinsGT
NM_001136114.2:c.45_46delinsGT	NP_001129586.1:n.45_46delinsGT
NM_001353193.2:c.45_46delinsGT	NP_001340122.2:n.45_46delinsGT
NM_001353194.2:c.45_46delinsGT	NP_001340123.1:n.45_46delinsGT
NM_001353195.2:c.45_46delinsGT	NP_001340124.1:n.45_46delinsGT
NM_001353196.2:c.45_46delinsGT	NP_001340125.1:n.45_46delinsGT
NM_001353197.2:c.45_46delinsGT	NP_001340126.2:n.45_46delinsGT
NM_001353198.2:c.45_46delinsGT	NP_001340127.2:n.45_46delinsGT
NM_001353199.2:c.45_46delinsGT	NP_001340128.2:n.45_46delinsGT
NM_001353200.2:c.45_46delinsGT	NP_001340129.1:n.45_46delinsGT
NM_001374689.1:c.45_46delinsGT	NP_001361618.1:n.45_46delinsGT
NM_001374690.1:c.45_46delinsGT	NP_001361619.1:n.45_46delinsGT
NM_001374691.1:c.45_46delinsGT	NP_001361620.1:n.45_46delinsGT
NM_001374692.1:c.45_46delinsGT	NP_001361621.1:n.45_46delinsGT
NM_001374693.1:c.45_46delinsGT	NP_001361622.1:n.45_46delinsGT
NM_001374695.1:c.45_46delinsGT	NP_001361624.1:n.45_46delinsGT
NM_007171.4:c.45_46delinsGT	NP_009102.4:n.45_46delinsGT
NR_148391.2:n.2257_2258delinsGT
NR_148392.2:n.2475_2476delinsGT
NR_148393.2:n.2396_2397delinsGT
NR_148394.2:n.2150_2151delinsGT
NR_148395.2:n.2548_2549delinsGT
NR_148396.2:n.2182_2183delinsGT
NR_148397.2:n.2307_2308delinsGT
NR_148398.2:n.2262_2263delinsGT
NR_148399.2:n.2788_2789delinsGT
NR_148400.2:n.2387_2388delinsGT

HGVS	Amino-acid Change
ENST00000341012.13:c.45_46delinsGT	ENSP00000343034.7:n.45_46delinsGT
ENST00000404875.7:n.2763_2764delinsGT
ENST00000677295.2:c.2567_2568delinsGT	ENSP00000504346.2:n.2567_2568delinsGT
ENST00000678264.2:c.2406_2407delinsGT	ENSP00000503157.2:n.2406_2407delinsGT
ENST00000682070.1:n.2533_2534delinsGT
ENST00000682639.1:c.220_221delinsGT
ENST00000682813.1:n.2620_2621delinsGT
ENST00000683231.1:c.220_221delinsGT
ENST00000683392.1:n.4815_4816delinsGT
ENST00000683900.1:n.4123_4124delinsGT
ENST00000684062.1:n.2889_2890delinsGT
ENST00000684399.1:c.220_221delinsGT
ENST00000684579.1:n.4069_4070delinsGT
ENST00000341012.12:c.45_46delinsGT	ENSP00000343034.7:n.45_46delinsGT
ENST00000372220.5:c.45_46delinsGT	ENSP00000361294.5:n.45_46delinsGT
ENST00000372228.9:c.45_46delinsGT	ENSP00000361302.3:n.45_46delinsGT
ENST00000402686.8:c.45_46delinsGT MANE Select	ENSP00000385797.4:n.45_46delinsGT
ENST00000676640.1:c.45_46delinsGT	ENSP00000503281.1:n.45_46delinsGT
ENST00000676803.1:c.45_46delinsGT	ENSP00000503093.1:n.45_46delinsGT
ENST00000676835.1:c.1438_1439delinsGT	ENSP00000502911.1:n.1438_1439delinsGT
ENST00000677029.1:c.45_46delinsGT	ENSP00000502936.1:n.45_46delinsGT
ENST00000677099.1:c.1933_1934delinsGT	ENSP00000504553.1:n.1933_1934delinsGT
ENST00000677216.1:c.45_46delinsGT	ENSP00000503772.1:n.45_46delinsGT
ENST00000677295.1:c.1445_1446delinsGT	ENSP00000504346.1:n.1445_1446delinsGT
ENST00000677444.1:c.2168_2169delinsGT
ENST00000677626.1:c.45_46delinsGT	ENSP00000503552.1:n.45_46delinsGT
ENST00000677853.1:c.1231_1232delinsGT	ENSP00000503488.1:n.1231_1232delinsGT
ENST00000678303.1:c.45_46delinsGT	ENSP00000503696.1:n.45_46delinsGT
ENST00000678366.1:c.2472_2473delinsGT	ENSP00000504353.1:n.2472_2473delinsGT
ENST00000678546.1:c.2168_2169delinsGT	ENSP00000503062.1:n.2168_2169delinsGT
ENST00000678548.1:c.2362_2363delinsGT	ENSP00000503934.1:n.2362_2363delinsGT
ENST00000678626.1:n.2059_2060delinsGT
ENST00000678739.1:c.2389_2390delinsGT	ENSP00000503806.1:n.2389_2390delinsGT
ENST00000678833.1:c.1975_1976delinsGT	ENSP00000503893.1:n.1975_1976delinsGT
ENST00000679023.1:c.45_46delinsGT	ENSP00000503718.1:n.45_46delinsGT
ENST00000679076.1:c.1842_1843delinsGT
ENST00000679111.1:c.979_980delinsGT	ENSP00000504257.1:n.979_980delinsGT
ENST00000679189.1:c.45_46delinsGT	ENSP00000503356.1:n.45_46delinsGT
ENST00000341012.11:c.45_46delinsGT	ENSP00000343034.7:n.45_46delinsGT
ENST00000372220.4:c.1086_1087delinsGT	ENSP00000361294.4:n.1086_1087delinsGT
ENST00000372228.7:c.45_46delinsGT	ENSP00000361302.3:n.45_46delinsGT
ENST00000402686.7:c.45_46delinsGT	ENSP00000385797.3:n.45_46delinsGT
ENST00000404875.6:c.45_46delinsGT	ENSP00000384531.2:n.45_46delinsGT
ENST00000423007.5:c.45_46delinsGT	ENSP00000404119.1:n.45_46delinsGT
ENST00000485278.5:n.2773_2774delinsGT
NM_001077365.1:c.45_46delinsGT	NP_001070833.1:n.45_46delinsGT
NM_001077366.1:c.45_46delinsGT	NP_001070834.1:n.45_46delinsGT
NM_001136113.1:c.45_46delinsGT	NP_001129585.1:n.45_46delinsGT
NM_001136114.1:c.45_46delinsGT	NP_001129586.1:n.45_46delinsGT
NM_007171.3:c.45_46delinsGT	NP_009102.3:n.45_46delinsGT
XM_005272156.1:c.45_46delinsGT	XP_005272213.1:n.45_46delinsGT
XM_005272158.1:c.45_46delinsGT	XP_005272215.1:n.45_46delinsGT
XM_005272159.1:c.45_46delinsGT	XP_005272216.1:n.45_46delinsGT
XM_005272162.1:c.45_46delinsGT	XP_005272219.1:n.45_46delinsGT
XM_006716932.1:c.45_46delinsGT	XP_006716995.1:n.45_46delinsGT
XM_011518140.1:c.45_46delinsGT	XP_011516442.1:n.45_46delinsGT
XM_011518141.1:c.45_46delinsGT	XP_011516443.1:n.45_46delinsGT
XM_011518142.1:c.45_46delinsGT	XP_011516444.1:n.45_46delinsGT
XM_011518143.1:c.45_46delinsGT	XP_011516445.1:n.45_46delinsGT
XM_011518145.1:c.45_46delinsGT	XP_011516447.1:n.45_46delinsGT
XM_011518147.1:c.45_46delinsGT	XP_011516449.1:n.45_46delinsGT
XR_929703.1:n.2465_2466delinsGT
NM_001353193.1:c.45_46delinsGT	NP_001340122.1:n.45_46delinsGT
NM_001353194.1:c.45_46delinsGT	NP_001340123.1:n.45_46delinsGT
NM_001353195.1:c.45_46delinsGT	NP_001340124.1:n.45_46delinsGT
NM_001353196.1:c.45_46delinsGT	NP_001340125.1:n.45_46delinsGT
NM_001353197.1:c.45_46delinsGT	NP_001340126.1:n.45_46delinsGT
NM_001353198.1:c.45_46delinsGT	NP_001340127.1:n.45_46delinsGT
NM_001353199.1:c.45_46delinsGT	NP_001340128.1:n.45_46delinsGT
NM_001353200.1:c.45_46delinsGT	NP_001340129.1:n.45_46delinsGT
NR_148391.1:n.2273_2274delinsGT
NR_148392.1:n.2491_2492delinsGT
NR_148393.1:n.2412_2413delinsGT
NR_148394.1:n.2166_2167delinsGT
NR_148395.1:n.2564_2565delinsGT
NR_148396.1:n.2198_2199delinsGT
NR_148397.1:n.2323_2324delinsGT
NR_148398.1:n.2278_2279delinsGT
NR_148399.1:n.2804_2805delinsGT
NR_148400.1:n.2403_2404delinsGT
XM_005272162.3:c.45_46delinsGT	XP_005272219.1:n.45_46delinsGT
XM_006716932.2:c.45_46delinsGT	XP_006716995.1:n.45_46delinsGT
XM_011518140.2:c.45_46delinsGT	XP_011516442.1:n.45_46delinsGT
XM_011518141.2:c.45_46delinsGT	XP_011516443.1:n.45_46delinsGT
XM_011518142.2:c.45_46delinsGT	XP_011516444.1:n.45_46delinsGT
XM_011518143.2:c.45_46delinsGT	XP_011516445.1:n.45_46delinsGT
XM_011518145.2:c.45_46delinsGT	XP_011516447.1:n.45_46delinsGT
XM_017014205.2:c.45_46delinsGT	XP_016869694.1:n.45_46delinsGT
XM_024447380.1:c.45_46delinsGT	XP_024303148.1:n.45_46delinsGT
XM_024447381.1:c.45_46delinsGT	XP_024303149.1:n.45_46delinsGT
XM_024447382.1:c.45_46delinsGT	XP_024303150.1:n.45_46delinsGT
XR_001746160.2:n.2393_2394delinsGT
XR_001746162.2:n.2598_2599delinsGT
XR_001746164.1:n.2315_2316delinsGT
XR_001746166.2:n.2610_2611delinsGT
NM_001077365.2:c.45_46delinsGT MANE Select	NP_001070833.1:n.45_46delinsGT
NM_001077366.2:c.45_46delinsGT	NP_001070834.1:n.45_46delinsGT
NM_001136113.2:c.45_46delinsGT	NP_001129585.1:n.45_46delinsGT
NM_001136114.2:c.45_46delinsGT	NP_001129586.1:n.45_46delinsGT
NM_001353193.2:c.45_46delinsGT	NP_001340122.2:n.45_46delinsGT
NM_001353194.2:c.45_46delinsGT	NP_001340123.1:n.45_46delinsGT
NM_001353195.2:c.45_46delinsGT	NP_001340124.1:n.45_46delinsGT
NM_001353196.2:c.45_46delinsGT	NP_001340125.1:n.45_46delinsGT
NM_001353197.2:c.45_46delinsGT	NP_001340126.2:n.45_46delinsGT
NM_001353198.2:c.45_46delinsGT	NP_001340127.2:n.45_46delinsGT
NM_001353199.2:c.45_46delinsGT	NP_001340128.2:n.45_46delinsGT
NM_001353200.2:c.45_46delinsGT	NP_001340129.1:n.45_46delinsGT
NM_001374689.1:c.45_46delinsGT	NP_001361618.1:n.45_46delinsGT
NM_001374690.1:c.45_46delinsGT	NP_001361619.1:n.45_46delinsGT
NM_001374691.1:c.45_46delinsGT	NP_001361620.1:n.45_46delinsGT
NM_001374692.1:c.45_46delinsGT	NP_001361621.1:n.45_46delinsGT
NM_001374693.1:c.45_46delinsGT	NP_001361622.1:n.45_46delinsGT
NM_001374695.1:c.45_46delinsGT	NP_001361624.1:n.45_46delinsGT
NM_007171.4:c.45_46delinsGT	NP_009102.4:n.45_46delinsGT
NR_148391.2:n.2257_2258delinsGT
NR_148392.2:n.2475_2476delinsGT
NR_148393.2:n.2396_2397delinsGT
NR_148394.2:n.2150_2151delinsGT
NR_148395.2:n.2548_2549delinsGT
NR_148396.2:n.2182_2183delinsGT
NR_148397.2:n.2307_2308delinsGT
NR_148398.2:n.2262_2263delinsGT
NR_148399.2:n.2788_2789delinsGT
NR_148400.2:n.2387_2388delinsGT