Canonical Allele Identifier: CA2277818131

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118626_80118627delinsCT , CM000679.2:g.80118626_80118627delinsCT	GRCh38
NC_000017.10:g.78092425_78092426delinsCT , CM000679.1:g.78092425_78092426delinsCT	GRCh37
NC_000017.9:g.75707020_75707021delinsCT	NCBI36
NG_009822.1:g.22071_22072delinsCT , LRG_673:g.22071_22072delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.2647-27_2647-26delinsCT	ENSP00000460543.2:n.2647-27_2647-26delins...
ENST00000572080.2:c.*785-27_*785-26delinsCT	ENSP00000459972.2:n.*785-27_*785-26delins...
ENST00000577106.6:c.2647-27_2647-26delinsCT	ENSP00000458306.2:n.2647-27_2647-26delins...
ENST00000302262.8:c.2647-27_2647-26delinsCT MANE Select	ENSP00000305692.3:n.2647-27_2647-26delins...
ENST00000302262.7:c.2647-27_2647-26delinsCT	ENSP00000305692.3:n.2647-27_2647-26delins...
ENST00000390015.7:c.2647-27_2647-26delinsCT	ENSP00000374665.3:n.2647-27_2647-26delins...
ENST00000573556.1:n.600-27_600-26delinsCT
NM_000152.3:c.2647-27_2647-26delinsCT , LRG_673t1:c.2647-27_2647-26delinsCT	NP_000143.2:n.2647-27_2647-26delinsCT
NM_001079803.1:c.2647-27_2647-26delinsCT	NP_001073271.1:n.2647-27_2647-26delinsCT
NM_001079804.1:c.2647-27_2647-26delinsCT	NP_001073272.1:n.2647-27_2647-26delinsCT
XM_005257193.1:c.2647-27_2647-26delinsCT	XP_005257250.1:n.2647-27_2647-26delinsCT
XM_005257194.3:c.2647-27_2647-26delinsCT	XP_005257251.1:n.2647-27_2647-26delinsCT
NM_000152.4:c.2647-27_2647-26delinsCT	NP_000143.2:n.2647-27_2647-26delinsCT
NM_001079803.2:c.2647-27_2647-26delinsCT	NP_001073271.1:n.2647-27_2647-26delinsCT
NM_001079804.2:c.2647-27_2647-26delinsCT	NP_001073272.1:n.2647-27_2647-26delinsCT
XM_005257193.2:c.2647-27_2647-26delinsCT	XP_005257250.1:n.2647-27_2647-26delinsCT
XM_005257194.4:c.2647-27_2647-26delinsCT	XP_005257251.1:n.2647-27_2647-26delinsCT
NM_000152.5:c.2647-27_2647-26delinsCT MANE Select	NP_000143.2:n.2647-27_2647-26delinsCT
NM_001079803.3:c.2647-27_2647-26delinsCT	NP_001073271.1:n.2647-27_2647-26delinsCT
NM_001079804.3:c.2647-27_2647-26delinsCT	NP_001073272.1:n.2647-27_2647-26delinsCT