Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46705376_46705379delinsTCTC , CM000681.2:g.46705376_46705379delinsTCTC	GRCh38
NC_000019.9:g.47208633_47208636delinsTCTC , CM000681.1:g.47208633_47208636delinsTCTC	GRCh37
NC_000019.8:g.51900473_51900476delinsTCTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.512-730_512-727delinsGAGA MANE Select	ENSP00000291281.3:n.512-730_512-727delinsGAGA
ENST00000291281.8:c.512-730_512-727delinsGAGA	ENSP00000291281.3:n.512-730_512-727delinsGAGA
ENST00000433867.5:c.512-730_512-727delinsGAGA	ENSP00000393978.1:n.512-730_512-727delinsGAGA
ENST00000595132.5:c.41-730_41-727delinsGAGA	ENSP00000470363.1:n.41-730_41-727delinsGAGA
ENST00000595515.5:c.512-730_512-727delinsGAGA	ENSP00000470804.1:n.512-730_512-727delinsGAGA
ENST00000597641.1:c.247-730_247-727delinsGAGA	ENSP00000469064.1:n.247-730_247-727delinsGAGA
ENST00000598633.1:c.41-730_41-727delinsGAGA	ENSP00000470919.1:n.41-730_41-727delinsGAGA
ENST00000600194.5:c.41-730_41-727delinsGAGA	ENSP00000472744.1:n.41-730_41-727delinsGAGA
ENST00000601605.5:c.41-4267_41-4264delinsGAGA	ENSP00000470442.1:n.41-4267_41-4264delinsGAGA
ENST00000601806.5:c.41-730_41-727delinsGAGA	ENSP00000469106.1:n.41-730_41-727delinsGAGA
NM_001079880.1:c.512-730_512-727delinsGAGA	NP_001073349.1:n.512-730_512-727delinsGAGA
NM_001079881.1:c.512-730_512-727delinsGAGA	NP_001073350.1:n.512-730_512-727delinsGAGA
NM_001079882.1:c.41-730_41-727delinsGAGA	NP_001073351.1:n.41-730_41-727delinsGAGA
NM_016457.4:c.512-730_512-727delinsGAGA	NP_057541.2:n.512-730_512-727delinsGAGA
XM_005258716.2:c.41-730_41-727delinsGAGA	XP_005258773.2:n.41-730_41-727delinsGAGA
NM_001079880.2:c.512-730_512-727delinsGAGA	NP_001073349.1:n.512-730_512-727delinsGAGA
NM_001079881.2:c.512-730_512-727delinsGAGA	NP_001073350.1:n.512-730_512-727delinsGAGA
NM_001079882.2:c.41-730_41-727delinsGAGA	NP_001073351.1:n.41-730_41-727delinsGAGA
NM_016457.5:c.512-730_512-727delinsGAGA MANE Select	NP_057541.2:n.512-730_512-727delinsGAGA