Canonical Allele Identifier: CA2277811009

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105368_80105377delinsTCAGGTAGAG , CM000679.2:g.80105368_80105377delinsTCAGGTAGAG	GRCh38
NC_000017.10:g.78079167_78079176delinsTCAGGTAGAG , CM000679.1:g.78079167_78079176delinsTCAGGTAGAG	GRCh37
NC_000017.9:g.75693762_75693771delinsTCAGGTAGAG	NCBI36
NG_009822.1:g.8813_8822delinsTCAGGTAGAG , LRG_673:g.8813_8822delinsTCAGGTAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.546+236_546+245delinsTCAGGTAGAG	ENSP00000460543.2:n.546+236_546+245delinsTCAGGTAGAG
ENST00000572080.2:c.546+236_546+245delinsTCAGGTAGAG	ENSP00000459972.2:n.546+236_546+245delinsTCAGGTAGAG
ENST00000577106.6:c.546+236_546+245delinsTCAGGTAGAG	ENSP00000458306.2:n.546+236_546+245delinsTCAGGTAGAG
ENST00000302262.8:c.546+236_546+245delinsTCAGGTAGAG MANE Select	ENSP00000305692.3:n.546+236_546+245delinsTCAGGTAGAG
ENST00000302262.7:c.546+236_546+245delinsTCAGGTAGAG	ENSP00000305692.3:n.546+236_546+245delinsTCAGGTAGAG
ENST00000390015.7:c.546+236_546+245delinsTCAGGTAGAG	ENSP00000374665.3:n.546+236_546+245delinsTCAGGTAGAG
ENST00000570803.5:c.546+236_546+245delinsTCAGGTAGAG	ENSP00000460543.1:n.546+236_546+245delinsTCAGGTAGAG
ENST00000577106.5:c.546+236_546+245delinsTCAGGTAGAG	ENSP00000458306.1:n.546+236_546+245delinsTCAGGTAGAG
NM_000152.3:c.546+236_546+245delinsTCAGGTAGAG , LRG_673t1:c.546+236_546+245delinsTCAGGTAGAG	NP_000143.2:n.546+236_546+245delinsTCAGGTAGAG
NM_001079803.1:c.546+236_546+245delinsTCAGGTAGAG	NP_001073271.1:n.546+236_546+245delinsTCAGGTAGAG
NM_001079804.1:c.546+236_546+245delinsTCAGGTAGAG	NP_001073272.1:n.546+236_546+245delinsTCAGGTAGAG
XM_005257193.1:c.546+236_546+245delinsTCAGGTAGAG	XP_005257250.1:n.546+236_546+245delinsTCAGGTAGAG
XM_005257194.3:c.546+236_546+245delinsTCAGGTAGAG	XP_005257251.1:n.546+236_546+245delinsTCAGGTAGAG
NM_000152.4:c.546+236_546+245delinsTCAGGTAGAG	NP_000143.2:n.546+236_546+245delinsTCAGGTAGAG
NM_001079803.2:c.546+236_546+245delinsTCAGGTAGAG	NP_001073271.1:n.546+236_546+245delinsTCAGGTAGAG
NM_001079804.2:c.546+236_546+245delinsTCAGGTAGAG	NP_001073272.1:n.546+236_546+245delinsTCAGGTAGAG
XM_005257193.2:c.546+236_546+245delinsTCAGGTAGAG	XP_005257250.1:n.546+236_546+245delinsTCAGGTAGAG
XM_005257194.4:c.546+236_546+245delinsTCAGGTAGAG	XP_005257251.1:n.546+236_546+245delinsTCAGGTAGAG
NM_000152.5:c.546+236_546+245delinsTCAGGTAGAG MANE Select	NP_000143.2:n.546+236_546+245delinsTCAGGTAGAG
NM_001079803.3:c.546+236_546+245delinsTCAGGTAGAG	NP_001073271.1:n.546+236_546+245delinsTCAGGTAGAG
NM_001079804.3:c.546+236_546+245delinsTCAGGTAGAG	NP_001073272.1:n.546+236_546+245delinsTCAGGTAGAG