Canonical Allele Identifier: CA2277818120

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118609_80118612delinsACCT , CM000679.2:g.80118609_80118612delinsACCT	GRCh38
NC_000017.10:g.78092408_78092411delinsACCT , CM000679.1:g.78092408_78092411delinsACCT	GRCh37
NC_000017.9:g.75707003_75707006delinsACCT	NCBI36
NG_009822.1:g.22054_22057delinsACCT , LRG_673:g.22054_22057delinsACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2647-44_2647-41delinsACCT	ENSP00000460543.2:n.2647-44_2647-41delinsACCT
ENST00000572080.2:c.*785-44_*785-41delinsACCT	ENSP00000459972.2:n.*785-44_*785-41delinsACCT
ENST00000577106.6:c.2647-44_2647-41delinsACCT	ENSP00000458306.2:n.2647-44_2647-41delinsACCT
ENST00000302262.8:c.2647-44_2647-41delinsACCT MANE Select	ENSP00000305692.3:n.2647-44_2647-41delinsACCT
ENST00000302262.7:c.2647-44_2647-41delinsACCT	ENSP00000305692.3:n.2647-44_2647-41delinsACCT
ENST00000390015.7:c.2647-44_2647-41delinsACCT	ENSP00000374665.3:n.2647-44_2647-41delinsACCT
ENST00000573556.1:n.600-44_600-41delinsACCT
NM_000152.3:c.2647-44_2647-41delinsACCT , LRG_673t1:c.2647-44_2647-41delinsACCT	NP_000143.2:n.2647-44_2647-41delinsACCT
NM_001079803.1:c.2647-44_2647-41delinsACCT	NP_001073271.1:n.2647-44_2647-41delinsACCT
NM_001079804.1:c.2647-44_2647-41delinsACCT	NP_001073272.1:n.2647-44_2647-41delinsACCT
XM_005257193.1:c.2647-44_2647-41delinsACCT	XP_005257250.1:n.2647-44_2647-41delinsACCT
XM_005257194.3:c.2647-44_2647-41delinsACCT	XP_005257251.1:n.2647-44_2647-41delinsACCT
NM_000152.4:c.2647-44_2647-41delinsACCT	NP_000143.2:n.2647-44_2647-41delinsACCT
NM_001079803.2:c.2647-44_2647-41delinsACCT	NP_001073271.1:n.2647-44_2647-41delinsACCT
NM_001079804.2:c.2647-44_2647-41delinsACCT	NP_001073272.1:n.2647-44_2647-41delinsACCT
XM_005257193.2:c.2647-44_2647-41delinsACCT	XP_005257250.1:n.2647-44_2647-41delinsACCT
XM_005257194.4:c.2647-44_2647-41delinsACCT	XP_005257251.1:n.2647-44_2647-41delinsACCT
NM_000152.5:c.2647-44_2647-41delinsACCT MANE Select	NP_000143.2:n.2647-44_2647-41delinsACCT
NM_001079803.3:c.2647-44_2647-41delinsACCT	NP_001073271.1:n.2647-44_2647-41delinsACCT
NM_001079804.3:c.2647-44_2647-41delinsACCT	NP_001073272.1:n.2647-44_2647-41delinsACCT