Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790585_90790586delinsAT , CM000677.2:g.90790585_90790586delinsAT	GRCh38
NC_000015.9:g.91333815_91333816delinsAT , CM000677.1:g.91333815_91333816delinsAT	GRCh37
NC_000015.8:g.89134819_89134820delinsAT	NCBI36
NG_007272.1:g.78214_78215delinsAT , LRG_20:g.78214_78215delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2824-64_2824-63delinsAT MANE Select	ENSP00000347232.3:n.2824-64_2824-63delinsAT
ENST00000560559.2:n.1333_1334delinsAT
ENST00000648453.1:c.2824-64_2824-63delinsAT	ENSP00000497646.1:n.2824-64_2824-63delinsAT
ENST00000680772.1:c.2824-64_2824-63delinsAT	ENSP00000506117.1:n.2824-64_2824-63delinsAT
ENST00000681142.1:c.2824-64_2824-63delinsAT	ENSP00000506682.1:n.2824-64_2824-63delinsAT
ENST00000355112.7:c.2824-64_2824-63delinsAT	ENSP00000347232.3:n.2824-64_2824-63delinsAT
ENST00000559724.5:c.1748-64_1748-63delinsAT	ENSP00000453359.1:n.1748-64_1748-63delinsAT
ENST00000560136.5:n.850-64_850-63delinsAT
ENST00000560509.5:c.2824-64_2824-63delinsAT	ENSP00000454158.1:n.2824-64_2824-63delinsAT
ENST00000560559.1:n.297_298delinsAT
NM_000057.3:c.2824-64_2824-63delinsAT	NP_000048.1:n.2824-64_2824-63delinsAT
NM_001287246.1:c.2824-64_2824-63delinsAT	NP_001274175.1:n.2824-64_2824-63delinsAT
NM_001287247.1:c.2824-64_2824-63delinsAT	NP_001274176.1:n.2824-64_2824-63delinsAT
NM_001287248.1:c.1699-64_1699-63delinsAT	NP_001274177.1:n.1699-64_1699-63delinsAT
XM_006720632.2:c.862-64_862-63delinsAT	XP_006720695.1:n.862-64_862-63delinsAT
XM_011521881.1:c.1510-64_1510-63delinsAT	XP_011520183.1:n.1510-64_1510-63delinsAT
XM_011521881.2:c.1510-64_1510-63delinsAT	XP_011520183.1:n.1510-64_1510-63delinsAT
NM_000057.4:c.2824-64_2824-63delinsAT MANE Select	NP_000048.1:n.2824-64_2824-63delinsAT
NM_001287246.2:c.2824-64_2824-63delinsAT	NP_001274175.1:n.2824-64_2824-63delinsAT
NM_001287247.2:c.2824-64_2824-63delinsAT	NP_001274176.1:n.2824-64_2824-63delinsAT
NM_001287248.2:c.1699-64_1699-63delinsAT	NP_001274177.1:n.1699-64_1699-63delinsAT