Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425307_6425309delinsGTT , CM000679.2:g.6425307_6425309delinsGTT	GRCh38
NC_000017.10:g.6328627_6328629delinsGTT , CM000679.1:g.6328627_6328629delinsGTT	GRCh37
NC_000017.9:g.6269351_6269353delinsGTT	NCBI36
NG_008474.1:g.14891_14893delinsAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.151_153delinsAAC MANE Select	ENSP00000370521.3:n.151_153delinsAAC
ENST00000250087.9:c.151_153delinsAAC	ENSP00000250087.5:n.151_153delinsAAC
ENST00000381128.2:c.1178_1180delinsAAC	ENSP00000370520.2:n.1178_1180delinsAAC
ENST00000381129.7:c.151_153delinsAAC	ENSP00000370521.3:n.151_153delinsAAC
ENST00000570584.5:c.251+8610_251+8612delinsAAC
ENST00000574506.5:c.151_153delinsAAC	ENSP00000458456.1:n.151_153delinsAAC
ENST00000575265.5:c.1277_1279delinsAAC	ENSP00000459673.1:n.1277_1279delinsAAC
NM_001033054.2:c.151_153delinsAAC	NP_001028226.1:n.151_153delinsAAC
NM_001033055.2:c.151_153delinsAAC	NP_001028227.1:n.151_153delinsAAC
NM_001285399.2:c.151_153delinsAAC	NP_001272328.1:n.151_153delinsAAC
NM_001285400.2:c.151_153delinsAAC	NP_001272329.1:n.151_153delinsAAC
NM_001285401.2:c.151_153delinsAAC	NP_001272330.1:n.151_153delinsAAC
NM_001285402.1:c.151_153delinsAAC	NP_001272331.1:n.151_153delinsAAC
NM_014336.4:c.151_153delinsAAC	NP_055151.3:n.151_153delinsAAC
NM_001033054.3:c.151_153delinsAAC	NP_001028226.1:n.151_153delinsAAC
NM_001033055.3:c.151_153delinsAAC	NP_001028227.1:n.151_153delinsAAC
NM_001285399.3:c.151_153delinsAAC	NP_001272328.1:n.151_153delinsAAC
NM_001285400.3:c.151_153delinsAAC	NP_001272329.1:n.151_153delinsAAC
NM_001285401.3:c.151_153delinsAAC	NP_001272330.1:n.151_153delinsAAC
NM_001285402.2:c.151_153delinsAAC	NP_001272331.1:n.151_153delinsAAC
NM_001285403.3:c.1277_1279delinsAAC	NP_001272332.1:n.1277_1279delinsAAC
NM_014336.5:c.151_153delinsAAC MANE Select	NP_055151.3:n.151_153delinsAAC
NM_001285403.4:c.1277_1279delinsAAC	NP_001272332.1:n.1277_1279delinsAAC

HGVS	Amino-acid change
ENST00000381129.8:c.151_153delinsAAC MANE Select	ENSP00000370521.3:n.151_153delinsAAC
ENST00000250087.9:c.151_153delinsAAC	ENSP00000250087.5:n.151_153delinsAAC
ENST00000381128.2:c.1178_1180delinsAAC	ENSP00000370520.2:n.1178_1180delinsAAC
ENST00000381129.7:c.151_153delinsAAC	ENSP00000370521.3:n.151_153delinsAAC
ENST00000570584.5:c.251+8610_251+8612delinsAAC
ENST00000574506.5:c.151_153delinsAAC	ENSP00000458456.1:n.151_153delinsAAC
ENST00000575265.5:c.1277_1279delinsAAC	ENSP00000459673.1:n.1277_1279delinsAAC
NM_001033054.2:c.151_153delinsAAC	NP_001028226.1:n.151_153delinsAAC
NM_001033055.2:c.151_153delinsAAC	NP_001028227.1:n.151_153delinsAAC
NM_001285399.2:c.151_153delinsAAC	NP_001272328.1:n.151_153delinsAAC
NM_001285400.2:c.151_153delinsAAC	NP_001272329.1:n.151_153delinsAAC
NM_001285401.2:c.151_153delinsAAC	NP_001272330.1:n.151_153delinsAAC
NM_001285402.1:c.151_153delinsAAC	NP_001272331.1:n.151_153delinsAAC
NM_014336.4:c.151_153delinsAAC	NP_055151.3:n.151_153delinsAAC
NM_001033054.3:c.151_153delinsAAC	NP_001028226.1:n.151_153delinsAAC
NM_001033055.3:c.151_153delinsAAC	NP_001028227.1:n.151_153delinsAAC
NM_001285399.3:c.151_153delinsAAC	NP_001272328.1:n.151_153delinsAAC
NM_001285400.3:c.151_153delinsAAC	NP_001272329.1:n.151_153delinsAAC
NM_001285401.3:c.151_153delinsAAC	NP_001272330.1:n.151_153delinsAAC
NM_001285402.2:c.151_153delinsAAC	NP_001272331.1:n.151_153delinsAAC
NM_001285403.3:c.1277_1279delinsAAC	NP_001272332.1:n.1277_1279delinsAAC
NM_014336.5:c.151_153delinsAAC MANE Select	NP_055151.3:n.151_153delinsAAC
NM_001285403.4:c.1277_1279delinsAAC	NP_001272332.1:n.1277_1279delinsAAC