Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425328_6425329insAGGGTG , CM000679.2:g.6425328_6425329insAGGGTG	GRCh38
NC_000017.10:g.6328648_6328649insAGGGTG , CM000679.1:g.6328648_6328649insAGGGTG	GRCh37
NC_000017.9:g.6269372_6269373insAGGGTG	NCBI36
NG_008474.1:g.14871_14872insCACCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.131_132insCACCCT MANE Select	ENSP00000370521.3:n.131_132insCACCCT
ENST00000250087.9:c.131_132insCACCCT	ENSP00000250087.5:n.131_132insCACCCT
ENST00000381128.2:c.1158_1159insCACCCT	ENSP00000370520.2:n.1158_1159insCACCCT
ENST00000381129.7:c.131_132insCACCCT	ENSP00000370521.3:n.131_132insCACCCT
ENST00000570584.5:c.251+8590_251+8591insCACCCT
ENST00000574506.5:c.131_132insCACCCT	ENSP00000458456.1:n.131_132insCACCCT
ENST00000575265.5:c.1257_1258insCACCCT	ENSP00000459673.1:n.1257_1258insCACCCT
NM_001033054.2:c.131_132insCACCCT	NP_001028226.1:n.131_132insCACCCT
NM_001033055.2:c.131_132insCACCCT	NP_001028227.1:n.131_132insCACCCT
NM_001285399.2:c.131_132insCACCCT	NP_001272328.1:n.131_132insCACCCT
NM_001285400.2:c.131_132insCACCCT	NP_001272329.1:n.131_132insCACCCT
NM_001285401.2:c.131_132insCACCCT	NP_001272330.1:n.131_132insCACCCT
NM_001285402.1:c.131_132insCACCCT	NP_001272331.1:n.131_132insCACCCT
NM_014336.4:c.131_132insCACCCT	NP_055151.3:n.131_132insCACCCT
NM_001033054.3:c.131_132insCACCCT	NP_001028226.1:n.131_132insCACCCT
NM_001033055.3:c.131_132insCACCCT	NP_001028227.1:n.131_132insCACCCT
NM_001285399.3:c.131_132insCACCCT	NP_001272328.1:n.131_132insCACCCT
NM_001285400.3:c.131_132insCACCCT	NP_001272329.1:n.131_132insCACCCT
NM_001285401.3:c.131_132insCACCCT	NP_001272330.1:n.131_132insCACCCT
NM_001285402.2:c.131_132insCACCCT	NP_001272331.1:n.131_132insCACCCT
NM_001285403.3:c.1257_1258insCACCCT	NP_001272332.1:n.1257_1258insCACCCT
NM_014336.5:c.131_132insCACCCT MANE Select	NP_055151.3:n.131_132insCACCCT
NM_001285403.4:c.1257_1258insCACCCT	NP_001272332.1:n.1257_1258insCACCCT

HGVS	Amino-acid Change
ENST00000381129.8:c.131_132insCACCCT MANE Select	ENSP00000370521.3:n.131_132insCACCCT
ENST00000250087.9:c.131_132insCACCCT	ENSP00000250087.5:n.131_132insCACCCT
ENST00000381128.2:c.1158_1159insCACCCT	ENSP00000370520.2:n.1158_1159insCACCCT
ENST00000381129.7:c.131_132insCACCCT	ENSP00000370521.3:n.131_132insCACCCT
ENST00000570584.5:c.251+8590_251+8591insCACCCT
ENST00000574506.5:c.131_132insCACCCT	ENSP00000458456.1:n.131_132insCACCCT
ENST00000575265.5:c.1257_1258insCACCCT	ENSP00000459673.1:n.1257_1258insCACCCT
NM_001033054.2:c.131_132insCACCCT	NP_001028226.1:n.131_132insCACCCT
NM_001033055.2:c.131_132insCACCCT	NP_001028227.1:n.131_132insCACCCT
NM_001285399.2:c.131_132insCACCCT	NP_001272328.1:n.131_132insCACCCT
NM_001285400.2:c.131_132insCACCCT	NP_001272329.1:n.131_132insCACCCT
NM_001285401.2:c.131_132insCACCCT	NP_001272330.1:n.131_132insCACCCT
NM_001285402.1:c.131_132insCACCCT	NP_001272331.1:n.131_132insCACCCT
NM_014336.4:c.131_132insCACCCT	NP_055151.3:n.131_132insCACCCT
NM_001033054.3:c.131_132insCACCCT	NP_001028226.1:n.131_132insCACCCT
NM_001033055.3:c.131_132insCACCCT	NP_001028227.1:n.131_132insCACCCT
NM_001285399.3:c.131_132insCACCCT	NP_001272328.1:n.131_132insCACCCT
NM_001285400.3:c.131_132insCACCCT	NP_001272329.1:n.131_132insCACCCT
NM_001285401.3:c.131_132insCACCCT	NP_001272330.1:n.131_132insCACCCT
NM_001285402.2:c.131_132insCACCCT	NP_001272331.1:n.131_132insCACCCT
NM_001285403.3:c.1257_1258insCACCCT	NP_001272332.1:n.1257_1258insCACCCT
NM_014336.5:c.131_132insCACCCT MANE Select	NP_055151.3:n.131_132insCACCCT
NM_001285403.4:c.1257_1258insCACCCT	NP_001272332.1:n.1257_1258insCACCCT