Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153452_162153454delinsCTA , CM000667.2:g.162153452_162153454delinsCTA	GRCh38
NC_000005.9:g.161580458_161580460delinsCTA , CM000667.1:g.161580458_161580460delinsCTA	GRCh37
NC_000005.8:g.161513036_161513038delinsCTA	NCBI36
NG_009290.1:g.90811_90813delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1513_1515delinsCTA
ENST00000361925.9:c.84_86delinsCTA	ENSP00000354651.5:n.84_86delinsCTA
ENST00000523372.2:c.1571_1573delinsCTA
ENST00000638253.1:n.766_768delinsCTA
ENST00000638552.1:c.84_86delinsCTA	ENSP00000491763.1:n.84_86delinsCTA
ENST00000638660.1:c.84_86delinsCTA	ENSP00000492869.1:n.84_86delinsCTA
ENST00000638772.1:c.4109_4111delinsCTA	ENSP00000491557.1:n.4109_4111delinsCTA
ENST00000638877.1:c.1389_1391delinsCTA
ENST00000639046.1:c.84_86delinsCTA	ENSP00000492659.1:n.84_86delinsCTA
ENST00000639111.2:c.84_86delinsCTA	ENSP00000492125.2:n.84_86delinsCTA
ENST00000639213.2:c.84_86delinsCTA MANE Select	ENSP00000491909.2:n.84_86delinsCTA
ENST00000639278.1:c.2175_2177delinsCTA	ENSP00000491958.1:n.2175_2177delinsCTA
ENST00000639384.1:c.1693_1695delinsCTA	ENSP00000491240.1:n.1693_1695delinsCTA
ENST00000639424.1:c.712_714delinsCTA	ENSP00000491245.1:n.712_714delinsCTA
ENST00000639683.1:c.84_86delinsCTA	ENSP00000492581.1:n.84_86delinsCTA
ENST00000639975.1:c.84_86delinsCTA	ENSP00000492096.1:n.84_86delinsCTA
ENST00000640500.1:n.786_788delinsCTA
ENST00000640739.1:n.6459_6461delinsCTA
ENST00000640985.1:c.84_86delinsCTA	ENSP00000492293.1:n.84_86delinsCTA
ENST00000641017.1:c.1581_1583delinsCTA	ENSP00000493461.1:n.1581_1583delinsCTA
ENST00000356592.7:c.84_86delinsCTA	ENSP00000349000.3:n.84_86delinsCTA
ENST00000361925.8:c.84_86delinsCTA	ENSP00000354651.4:n.84_86delinsCTA
ENST00000414552.6:c.84_86delinsCTA	ENSP00000410732.2:n.84_86delinsCTA
ENST00000522990.5:c.1090_1092delinsCTA	ENSP00000430732.1:n.1090_1092delinsCTA
ENST00000523372.1:c.1609_1611delinsCTA	ENSP00000430124.1:n.1609_1611delinsCTA
NM_000816.3:c.84_86delinsCTA	NP_000807.2:n.84_86delinsCTA
NM_198903.2:c.84_86delinsCTA	NP_944493.2:n.84_86delinsCTA
NM_198904.2:c.84_86delinsCTA	NP_944494.1:n.84_86delinsCTA
NM_001375339.1:c.84_86delinsCTA	NP_001362268.1:n.84_86delinsCTA
NM_001375340.1:c.346_348delinsCTA	NP_001362269.1:n.346_348delinsCTA
NM_001375341.1:c.84_86delinsCTA	NP_001362270.1:n.84_86delinsCTA
NM_001375342.1:c.84_86delinsCTA	NP_001362271.1:n.84_86delinsCTA
NM_001375343.1:c.84_86delinsCTA	NP_001362272.1:n.84_86delinsCTA
NM_001375344.1:c.84_86delinsCTA	NP_001362273.1:n.84_86delinsCTA
NM_001375345.1:c.84_86delinsCTA	NP_001362274.1:n.84_86delinsCTA
NM_001375346.1:c.84_86delinsCTA	NP_001362275.1:n.84_86delinsCTA
NM_001375347.1:c.84_86delinsCTA	NP_001362276.1:n.84_86delinsCTA
NM_001375348.1:c.84_86delinsCTA	NP_001362277.1:n.84_86delinsCTA
NM_001375349.1:c.84_86delinsCTA	NP_001362278.1:n.84_86delinsCTA
NM_001375350.1:c.84_86delinsCTA	NP_001362279.1:n.84_86delinsCTA
NM_198904.3:c.84_86delinsCTA	NP_944494.1:n.84_86delinsCTA
NM_198904.4:c.84_86delinsCTA MANE Select	NP_944494.1:n.84_86delinsCTA

HGVS	Amino-acid Change
ENST00000356592.8:c.1513_1515delinsCTA
ENST00000361925.9:c.84_86delinsCTA	ENSP00000354651.5:n.84_86delinsCTA
ENST00000523372.2:c.1571_1573delinsCTA
ENST00000638253.1:n.766_768delinsCTA
ENST00000638552.1:c.84_86delinsCTA	ENSP00000491763.1:n.84_86delinsCTA
ENST00000638660.1:c.84_86delinsCTA	ENSP00000492869.1:n.84_86delinsCTA
ENST00000638772.1:c.4109_4111delinsCTA	ENSP00000491557.1:n.4109_4111delinsCTA
ENST00000638877.1:c.1389_1391delinsCTA
ENST00000639046.1:c.84_86delinsCTA	ENSP00000492659.1:n.84_86delinsCTA
ENST00000639111.2:c.84_86delinsCTA	ENSP00000492125.2:n.84_86delinsCTA
ENST00000639213.2:c.84_86delinsCTA MANE Select	ENSP00000491909.2:n.84_86delinsCTA
ENST00000639278.1:c.2175_2177delinsCTA	ENSP00000491958.1:n.2175_2177delinsCTA
ENST00000639384.1:c.1693_1695delinsCTA	ENSP00000491240.1:n.1693_1695delinsCTA
ENST00000639424.1:c.712_714delinsCTA	ENSP00000491245.1:n.712_714delinsCTA
ENST00000639683.1:c.84_86delinsCTA	ENSP00000492581.1:n.84_86delinsCTA
ENST00000639975.1:c.84_86delinsCTA	ENSP00000492096.1:n.84_86delinsCTA
ENST00000640500.1:n.786_788delinsCTA
ENST00000640739.1:n.6459_6461delinsCTA
ENST00000640985.1:c.84_86delinsCTA	ENSP00000492293.1:n.84_86delinsCTA
ENST00000641017.1:c.1581_1583delinsCTA	ENSP00000493461.1:n.1581_1583delinsCTA
ENST00000356592.7:c.84_86delinsCTA	ENSP00000349000.3:n.84_86delinsCTA
ENST00000361925.8:c.84_86delinsCTA	ENSP00000354651.4:n.84_86delinsCTA
ENST00000414552.6:c.84_86delinsCTA	ENSP00000410732.2:n.84_86delinsCTA
ENST00000522990.5:c.1090_1092delinsCTA	ENSP00000430732.1:n.1090_1092delinsCTA
ENST00000523372.1:c.1609_1611delinsCTA	ENSP00000430124.1:n.1609_1611delinsCTA
NM_000816.3:c.84_86delinsCTA	NP_000807.2:n.84_86delinsCTA
NM_198903.2:c.84_86delinsCTA	NP_944493.2:n.84_86delinsCTA
NM_198904.2:c.84_86delinsCTA	NP_944494.1:n.84_86delinsCTA
NM_001375339.1:c.84_86delinsCTA	NP_001362268.1:n.84_86delinsCTA
NM_001375340.1:c.346_348delinsCTA	NP_001362269.1:n.346_348delinsCTA
NM_001375341.1:c.84_86delinsCTA	NP_001362270.1:n.84_86delinsCTA
NM_001375342.1:c.84_86delinsCTA	NP_001362271.1:n.84_86delinsCTA
NM_001375343.1:c.84_86delinsCTA	NP_001362272.1:n.84_86delinsCTA
NM_001375344.1:c.84_86delinsCTA	NP_001362273.1:n.84_86delinsCTA
NM_001375345.1:c.84_86delinsCTA	NP_001362274.1:n.84_86delinsCTA
NM_001375346.1:c.84_86delinsCTA	NP_001362275.1:n.84_86delinsCTA
NM_001375347.1:c.84_86delinsCTA	NP_001362276.1:n.84_86delinsCTA
NM_001375348.1:c.84_86delinsCTA	NP_001362277.1:n.84_86delinsCTA
NM_001375349.1:c.84_86delinsCTA	NP_001362278.1:n.84_86delinsCTA
NM_001375350.1:c.84_86delinsCTA	NP_001362279.1:n.84_86delinsCTA
NM_198904.3:c.84_86delinsCTA	NP_944494.1:n.84_86delinsCTA
NM_198904.4:c.84_86delinsCTA MANE Select	NP_944494.1:n.84_86delinsCTA