Canonical Allele Identifier: CA2277808994

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101594_80101595delinsTC , CM000679.2:g.80101594_80101595delinsTC	GRCh38
NC_000017.10:g.78075393_78075394delinsTC , CM000679.1:g.78075393_78075394delinsTC	GRCh37
NC_000017.9:g.75689988_75689989delinsTC	NCBI36
NG_009822.1:g.5039_5040delinsTC , LRG_673:g.5039_5040delinsTC
NG_029761.1:g.69963_69964delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.-64_-63delinsTC	ENSP00000460543.2:n.-64_-63delinsTC
ENST00000572080.2:c.-144_-143delinsTC	ENSP00000459972.2:n.-144_-143delinsTC
ENST00000577106.6:c.-179_-178delinsTC	ENSP00000458306.2:n.-179_-178delinsTC
ENST00000302262.8:c.-329_-328delinsTC MANE Select	ENSP00000305692.3:n.-329_-328delinsTC
ENST00000390015.7:c.-144_-143delinsTC	ENSP00000374665.3:n.-144_-143delinsTC
ENST00000570803.5:c.-64_-63delinsTC	ENSP00000460543.1:n.-64_-63delinsTC
ENST00000577106.5:c.-179_-178delinsTC	ENSP00000458306.1:n.-179_-178delinsTC
NM_000152.3:c.-329_-328delinsTC , LRG_673t1:c.-329_-328delinsTC	NP_000143.2:n.-329_-328delinsTC
NM_001079803.1:c.-144_-143delinsTC	NP_001073271.1:n.-144_-143delinsTC
NM_001079804.1:c.-64_-63delinsTC	NP_001073272.1:n.-64_-63delinsTC
XM_005257194.3:c.-179_-178delinsTC	XP_005257251.1:n.-179_-178delinsTC
NM_000152.4:c.-329_-328delinsTC	NP_000143.2:n.-329_-328delinsTC
NM_001079803.2:c.-144_-143delinsTC	NP_001073271.1:n.-144_-143delinsTC
NM_001079804.2:c.-64_-63delinsTC	NP_001073272.1:n.-64_-63delinsTC
NR_134848.1:n.69_70delinsTC
XM_005257194.4:c.-179_-178delinsTC	XP_005257251.1:n.-179_-178delinsTC
NM_000152.5:c.-329_-328delinsTC MANE Select	NP_000143.2:n.-329_-328delinsTC
NM_001079803.3:c.-144_-143delinsTC	NP_001073271.1:n.-144_-143delinsTC
NM_001079804.3:c.-64_-63delinsTC	NP_001073272.1:n.-64_-63delinsTC
NR_134848.2:n.14_15delinsTC