Canonical Allele Identifier: CA2277812137

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107383_80107384delinsTG , CM000679.2:g.80107383_80107384delinsTG	GRCh38
NC_000017.10:g.78081182_78081183delinsTG , CM000679.1:g.78081182_78081183delinsTG	GRCh37
NC_000017.9:g.75695777_75695778delinsTG	NCBI36
NG_009822.1:g.10828_10829delinsTG , LRG_673:g.10828_10829delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.693-174_693-173delinsTG	ENSP00000460543.2:n.693-174_693-173delinsTG
ENST00000572080.2:c.693-174_693-173delinsTG	ENSP00000459972.2:n.693-174_693-173delinsTG
ENST00000577106.6:c.693-174_693-173delinsTG	ENSP00000458306.2:n.693-174_693-173delinsTG
ENST00000302262.8:c.693-174_693-173delinsTG MANE Select	ENSP00000305692.3:n.693-174_693-173delinsTG
ENST00000302262.7:c.693-174_693-173delinsTG	ENSP00000305692.3:n.693-174_693-173delinsTG
ENST00000390015.7:c.693-174_693-173delinsTG	ENSP00000374665.3:n.693-174_693-173delinsTG
ENST00000570803.5:c.693-174_693-173delinsTG	ENSP00000460543.1:n.693-174_693-173delinsTG
NM_000152.3:c.693-174_693-173delinsTG , LRG_673t1:c.693-174_693-173delinsTG	NP_000143.2:n.693-174_693-173delinsTG
NM_001079803.1:c.693-174_693-173delinsTG	NP_001073271.1:n.693-174_693-173delinsTG
NM_001079804.1:c.693-174_693-173delinsTG	NP_001073272.1:n.693-174_693-173delinsTG
XM_005257193.1:c.693-174_693-173delinsTG	XP_005257250.1:n.693-174_693-173delinsTG
XM_005257194.3:c.693-174_693-173delinsTG	XP_005257251.1:n.693-174_693-173delinsTG
NM_000152.4:c.693-174_693-173delinsTG	NP_000143.2:n.693-174_693-173delinsTG
NM_001079803.2:c.693-174_693-173delinsTG	NP_001073271.1:n.693-174_693-173delinsTG
NM_001079804.2:c.693-174_693-173delinsTG	NP_001073272.1:n.693-174_693-173delinsTG
XM_005257193.2:c.693-174_693-173delinsTG	XP_005257250.1:n.693-174_693-173delinsTG
XM_005257194.4:c.693-174_693-173delinsTG	XP_005257251.1:n.693-174_693-173delinsTG
NM_000152.5:c.693-174_693-173delinsTG MANE Select	NP_000143.2:n.693-174_693-173delinsTG
NM_001079803.3:c.693-174_693-173delinsTG	NP_001073271.1:n.693-174_693-173delinsTG
NM_001079804.3:c.693-174_693-173delinsTG	NP_001073272.1:n.693-174_693-173delinsTG