Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092324_43092328delinsTTGAA , CM000679.2:g.43092324_43092328delinsTTGAA	GRCh38
NC_000017.10:g.41244341_41244345delinsTTGAA , CM000679.1:g.41244341_41244345delinsTTGAA	GRCh37
NC_000017.9:g.38497867_38497871delinsTTGAA	NCBI36
NG_005905.2:g.125656_125660delinsTTCAA , LRG_292:g.125656_125660delinsTTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3267_3271delinsTTCAA
ENST00000461574.2:c.3203_3207delinsTTCAA	ENSP00000417241.2:p.Ile1068=
ENST00000470026.6:c.3203_3207delinsTTCAA	ENSP00000419274.2:p.Ile1068=
ENST00000473961.6:c.3077_3081delinsTTCAA	ENSP00000420201.2:p.Ile1026=
ENST00000476777.6:c.3200_3204delinsTTCAA	ENSP00000417554.2:p.Ile1067=
ENST00000477152.6:c.3125_3129delinsTTCAA	ENSP00000419988.2:p.Ile1042=
ENST00000478531.6:c.785-1296_785-1292delinsTTCAA	ENSP00000420412.2:n.785-1296_785-1292delinsTTCAA
ENST00000489037.2:c.3125_3129delinsTTCAA	ENSP00000420781.2:p.Ile1042=
ENST00000493919.6:c.647-1296_647-1292delinsTTCAA	ENSP00000418819.2:n.647-1296_647-1292delinsTTCAA
ENST00000494123.6:c.3203_3207delinsTTCAA	ENSP00000419103.2:p.Ile1068=
ENST00000497488.2:c.2315_2319delinsTTCAA	ENSP00000418986.2:p.Ile772=
ENST00000618469.2:c.3203_3207delinsTTCAA	ENSP00000478114.2:p.Ile1068=
ENST00000634433.2:c.3080_3084delinsTTCAA	ENSP00000489431.2:p.Ile1027=
ENST00000644379.2:c.3203_3207delinsTTCAA	ENSP00000496570.2:p.Ile1068=
ENST00000644555.2:c.647-1296_647-1292delinsTTCAA	ENSP00000494614.2:n.647-1296_647-1292delinsTTCAA
ENST00000652672.2:c.3062_3066delinsTTCAA	ENSP00000498906.2:p.Ile1021=
ENST00000484087.6:c.665-1296_665-1292delinsTTCAA	ENSP00000419481.2:n.665-1296_665-1292delinsTTCAA
ENST00000700182.1:c.707-1296_707-1292delinsTTCAA	ENSP00000514849.1:n.707-1296_707-1292delinsTTCAA
ENST00000357654.9:c.3203_3207delinsTTCAA MANE Select	ENSP00000350283.3:p.Ile1068=
ENST00000471181.7:c.3203_3207delinsTTCAA	ENSP00000418960.2:p.Ile1068=
ENST00000352993.7:c.671-1296_671-1292delinsTTCAA	ENSP00000312236.5:n.671-1296_671-1292delinsTTCAA
ENST00000354071.7:c.3203_3207delinsTTCAA	ENSP00000326002.7:p.Ile1068=
ENST00000357654.7:c.3203_3207delinsTTCAA	ENSP00000350283.3:p.Ile1068=
ENST00000461221.5:c.2986_2990delinsTTCAA	ENSP00000418548.1:n.2986_2990delinsTTCAA
ENST00000468300.5:c.788-1296_788-1292delinsTTCAA	ENSP00000417148.1:n.788-1296_788-1292delinsTTCAA
ENST00000471181.6:c.3203_3207delinsTTCAA	ENSP00000418960.2:p.Ile1068=
ENST00000478531.5:c.785-1296_785-1292delinsTTCAA	ENSP00000420412.1:n.785-1296_785-1292delinsTTCAA
ENST00000484087.5:c.410-1296_410-1292delinsTTCAA	ENSP00000419481.1:n.410-1296_410-1292delinsTTCAA
ENST00000487825.5:c.413-1296_413-1292delinsTTCAA	ENSP00000418212.1:n.413-1296_413-1292delinsTTCAA
ENST00000491747.6:c.788-1296_788-1292delinsTTCAA	ENSP00000420705.2:n.788-1296_788-1292delinsTTCAA
ENST00000493795.5:c.3062_3066delinsTTCAA	ENSP00000418775.1:p.Ile1021=
ENST00000493919.5:c.647-1296_647-1292delinsTTCAA	ENSP00000418819.1:n.647-1296_647-1292delinsTTCAA
ENST00000586385.5:c.5-28377_5-28373delinsTTCAA	ENSP00000465818.1:n.5-28377_5-28373delinsTTCAA
ENST00000591534.5:c.-43-17807_-43-17803delinsTTCAA	ENSP00000467329.1:n.-43-17807_-43-17803delinsTTCAA
ENST00000591849.5:c.-99+32943_-99+32947delinsTTCAA	ENSP00000465347.1:n.-99+32943_-99+32947delinsTTCAA
NM_007294.3:c.3203_3207delinsTTCAA , LRG_292t1:c.3203_3207delinsTTCAA	NP_009225.1:p.Ile1068=
NM_007297.3:c.3062_3066delinsTTCAA	NP_009228.2:p.Ile1021=
NM_007298.3:c.788-1296_788-1292delinsTTCAA	NP_009229.2:n.788-1296_788-1292delinsTTCAA
NM_007299.3:c.788-1296_788-1292delinsTTCAA	NP_009230.2:n.788-1296_788-1292delinsTTCAA
NM_007300.3:c.3203_3207delinsTTCAA	NP_009231.2:p.Ile1068=
NR_027676.1:n.3339_3343delinsTTCAA
NM_007294.4:c.3203_3207delinsTTCAA MANE Select	NP_009225.1:p.Ile1068=
NM_007297.4:c.3062_3066delinsTTCAA	NP_009228.2:p.Ile1021=
NM_007299.4:c.788-1296_788-1292delinsTTCAA	NP_009230.2:n.788-1296_788-1292delinsTTCAA
NM_007300.4:c.3203_3207delinsTTCAA	NP_009231.2:p.Ile1068=
NR_027676.2:n.3380_3384delinsTTCAA