Canonical Allele Identifier: CA2277809011

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101619_80101620delinsCG , CM000679.2:g.80101619_80101620delinsCG	GRCh38
NC_000017.10:g.78075418_78075419delinsCG , CM000679.1:g.78075418_78075419delinsCG	GRCh37
NC_000017.9:g.75690013_75690014delinsCG	NCBI36
NG_009822.1:g.5064_5065delinsCG , LRG_673:g.5064_5065delinsCG
NG_029761.1:g.69988_69989delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-39_-38delinsCG	ENSP00000460543.2:n.-39_-38delinsCG
ENST00000572080.2:c.-119_-118delinsCG	ENSP00000459972.2:n.-119_-118delinsCG
ENST00000577106.6:c.-154_-153delinsCG	ENSP00000458306.2:n.-154_-153delinsCG
ENST00000302262.8:c.-304_-303delinsCG MANE Select	ENSP00000305692.3:n.-304_-303delinsCG
ENST00000390015.7:c.-119_-118delinsCG	ENSP00000374665.3:n.-119_-118delinsCG
ENST00000570803.5:c.-39_-38delinsCG	ENSP00000460543.1:n.-39_-38delinsCG
ENST00000574376.1:n.23_24delinsCG
ENST00000577106.5:c.-154_-153delinsCG	ENSP00000458306.1:n.-154_-153delinsCG
NM_000152.3:c.-304_-303delinsCG , LRG_673t1:c.-304_-303delinsCG	NP_000143.2:n.-304_-303delinsCG
NM_001079803.1:c.-119_-118delinsCG	NP_001073271.1:n.-119_-118delinsCG
NM_001079804.1:c.-39_-38delinsCG	NP_001073272.1:n.-39_-38delinsCG
XM_005257194.3:c.-154_-153delinsCG	XP_005257251.1:n.-154_-153delinsCG
NM_000152.4:c.-304_-303delinsCG	NP_000143.2:n.-304_-303delinsCG
NM_001079803.2:c.-119_-118delinsCG	NP_001073271.1:n.-119_-118delinsCG
NM_001079804.2:c.-39_-38delinsCG	NP_001073272.1:n.-39_-38delinsCG
NR_134848.1:n.94_95delinsCG
XM_005257194.4:c.-154_-153delinsCG	XP_005257251.1:n.-154_-153delinsCG
NM_000152.5:c.-304_-303delinsCG MANE Select	NP_000143.2:n.-304_-303delinsCG
NM_001079803.3:c.-119_-118delinsCG	NP_001073271.1:n.-119_-118delinsCG
NM_001079804.3:c.-39_-38delinsCG	NP_001073272.1:n.-39_-38delinsCG
NR_134848.2:n.39_40delinsCG