Canonical Allele Identifier: CA2277812241

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107584_80107586delinsCTT , CM000679.2:g.80107584_80107586delinsCTT	GRCh38
NC_000017.10:g.78081383_78081385delinsCTT , CM000679.1:g.78081383_78081385delinsCTT	GRCh37
NC_000017.9:g.75695978_75695980delinsCTT	NCBI36
NG_009822.1:g.11029_11031delinsCTT , LRG_673:g.11029_11031delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.720_722delinsCTT	ENSP00000460543.2:p.Phe240=
ENST00000572080.2:c.720_722delinsCTT	ENSP00000459972.2:p.Phe240=
ENST00000577106.6:c.720_722delinsCTT	ENSP00000458306.2:p.Phe240=
ENST00000302262.8:c.720_722delinsCTT MANE Select	ENSP00000305692.3:p.Phe240=
ENST00000302262.7:c.720_722delinsCTT	ENSP00000305692.3:p.Phe240=
ENST00000390015.7:c.720_722delinsCTT	ENSP00000374665.3:p.Phe240=
ENST00000570803.5:c.720_722delinsCTT	ENSP00000460543.1:p.Phe240=
NM_000152.3:c.720_722delinsCTT , LRG_673t1:c.720_722delinsCTT	NP_000143.2:p.Phe240=
NM_001079803.1:c.720_722delinsCTT	NP_001073271.1:p.Phe240=
NM_001079804.1:c.720_722delinsCTT	NP_001073272.1:p.Phe240=
XM_005257193.1:c.720_722delinsCTT	XP_005257250.1:p.Phe240=
XM_005257194.3:c.720_722delinsCTT	XP_005257251.1:p.Phe240=
NM_000152.4:c.720_722delinsCTT	NP_000143.2:p.Phe240=
NM_001079803.2:c.720_722delinsCTT	NP_001073271.1:p.Phe240=
NM_001079804.2:c.720_722delinsCTT	NP_001073272.1:p.Phe240=
XM_005257193.2:c.720_722delinsCTT	XP_005257250.1:p.Phe240=
XM_005257194.4:c.720_722delinsCTT	XP_005257251.1:p.Phe240=
NM_000152.5:c.720_722delinsCTT MANE Select	NP_000143.2:p.Phe240=
NM_001079803.3:c.720_722delinsCTT	NP_001073271.1:p.Phe240=
NM_001079804.3:c.720_722delinsCTT	NP_001073272.1:p.Phe240=