Canonical Allele Identifier: CA2277818142

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118641_80118646delinsTGCTCG , CM000679.2:g.80118641_80118646delinsTGCTCG	GRCh38
NC_000017.10:g.78092440_78092445delinsTGCTCG , CM000679.1:g.78092440_78092445delinsTGCTCG	GRCh37
NC_000017.9:g.75707035_75707040delinsTGCTCG	NCBI36
NG_009822.1:g.22086_22091delinsTGCTCG , LRG_673:g.22086_22091delinsTGCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2647-12_2647-7delinsTGCTCG	ENSP00000460543.2:n.2647-12_2647-7delinsTGCTCG
ENST00000572080.2:c.*785-12_*785-7delinsTGCTCG	ENSP00000459972.2:n.*785-12_*785-7delinsTGCTCG
ENST00000577106.6:c.2647-12_2647-7delinsTGCTCG	ENSP00000458306.2:n.2647-12_2647-7delinsTGCTCG
ENST00000302262.8:c.2647-12_2647-7delinsTGCTCG MANE Select	ENSP00000305692.3:n.2647-12_2647-7delinsTGCTCG
ENST00000302262.7:c.2647-12_2647-7delinsTGCTCG	ENSP00000305692.3:n.2647-12_2647-7delinsTGCTCG
ENST00000390015.7:c.2647-12_2647-7delinsTGCTCG	ENSP00000374665.3:n.2647-12_2647-7delinsTGCTCG
ENST00000573556.1:n.600-12_600-7delinsTGCTCG
NM_000152.3:c.2647-12_2647-7delinsTGCTCG , LRG_673t1:c.2647-12_2647-7delinsTGCTCG	NP_000143.2:n.2647-12_2647-7delinsTGCTCG
NM_001079803.1:c.2647-12_2647-7delinsTGCTCG	NP_001073271.1:n.2647-12_2647-7delinsTGCTCG
NM_001079804.1:c.2647-12_2647-7delinsTGCTCG	NP_001073272.1:n.2647-12_2647-7delinsTGCTCG
XM_005257193.1:c.2647-12_2647-7delinsTGCTCG	XP_005257250.1:n.2647-12_2647-7delinsTGCTCG
XM_005257194.3:c.2647-12_2647-7delinsTGCTCG	XP_005257251.1:n.2647-12_2647-7delinsTGCTCG
NM_000152.4:c.2647-12_2647-7delinsTGCTCG	NP_000143.2:n.2647-12_2647-7delinsTGCTCG
NM_001079803.2:c.2647-12_2647-7delinsTGCTCG	NP_001073271.1:n.2647-12_2647-7delinsTGCTCG
NM_001079804.2:c.2647-12_2647-7delinsTGCTCG	NP_001073272.1:n.2647-12_2647-7delinsTGCTCG
XM_005257193.2:c.2647-12_2647-7delinsTGCTCG	XP_005257250.1:n.2647-12_2647-7delinsTGCTCG
XM_005257194.4:c.2647-12_2647-7delinsTGCTCG	XP_005257251.1:n.2647-12_2647-7delinsTGCTCG
NM_000152.5:c.2647-12_2647-7delinsTGCTCG MANE Select	NP_000143.2:n.2647-12_2647-7delinsTGCTCG
NM_001079803.3:c.2647-12_2647-7delinsTGCTCG	NP_001073271.1:n.2647-12_2647-7delinsTGCTCG
NM_001079804.3:c.2647-12_2647-7delinsTGCTCG	NP_001073272.1:n.2647-12_2647-7delinsTGCTCG