Canonical Allele Identifier: CA2695227103

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112656_80112670delinsACGGGGTAT , CM000679.2:g.80112656_80112670delinsACGGGGTAT	GRCh38
NC_000017.10:g.78086455_78086469delinsACGGGGTAT , CM000679.1:g.78086455_78086469delinsACGGGGTAT	GRCh37
NC_000017.9:g.75701050_75701064delinsACGGGGTAT	NCBI36
NG_009822.1:g.16101_16115delinsACGGGGTAT , LRG_673:g.16101_16115delinsACGGGGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1833_1847delinsACGGGGTAT	ENSP00000460543.2:p.His612_Asp616delinsArgGlyIle
ENST00000572080.2:c.1833_1847delinsACGGGGTAT	ENSP00000459972.2:p.His612_Asp616delinsArgGlyIle
ENST00000577106.6:c.1833_1847delinsACGGGGTAT	ENSP00000458306.2:p.His612_Asp616delinsArgGlyIle
ENST00000302262.8:c.1833_1847delinsACGGGGTAT MANE Select	ENSP00000305692.3:p.His612_Asp616delinsArgGlyIle
ENST00000302262.7:c.1833_1847delinsACGGGGTAT	ENSP00000305692.3:p.His612_Asp616delinsArgGlyIle
ENST00000390015.7:c.1833_1847delinsACGGGGTAT	ENSP00000374665.3:p.His612_Asp616delinsArgGlyIle
ENST00000570716.1:n.273_287delinsACGGGGTAT
ENST00000572080.1:c.221_235delinsACGGGGTAT
ENST00000572803.1:n.447_461delinsACGGGGTAT
NM_000152.3:c.1833_1847delinsACGGGGTAT , LRG_673t1:c.1833_1847delinsACGGGGTAT	NP_000143.2:p.His612_Asp616delinsArgGlyIle
NM_001079803.1:c.1833_1847delinsACGGGGTAT	NP_001073271.1:p.His612_Asp616delinsArgGlyIle
NM_001079804.1:c.1833_1847delinsACGGGGTAT	NP_001073272.1:p.His612_Asp616delinsArgGlyIle
XM_005257193.1:c.1833_1847delinsACGGGGTAT	XP_005257250.1:p.His612_Asp616delinsArgGlyIle
XM_005257194.3:c.1833_1847delinsACGGGGTAT	XP_005257251.1:p.His612_Asp616delinsArgGlyIle
NM_000152.4:c.1833_1847delinsACGGGGTAT	NP_000143.2:p.His612_Asp616delinsArgGlyIle
NM_001079803.2:c.1833_1847delinsACGGGGTAT	NP_001073271.1:p.His612_Asp616delinsArgGlyIle
NM_001079804.2:c.1833_1847delinsACGGGGTAT	NP_001073272.1:p.His612_Asp616delinsArgGlyIle
XM_005257193.2:c.1833_1847delinsACGGGGTAT	XP_005257250.1:p.His612_Asp616delinsArgGlyIle
XM_005257194.4:c.1833_1847delinsACGGGGTAT	XP_005257251.1:p.His612_Asp616delinsArgGlyIle
NM_000152.5:c.1833_1847delinsACGGGGTAT MANE Select	NP_000143.2:p.His612_Asp616delinsArgGlyIle
NM_001079803.3:c.1833_1847delinsACGGGGTAT	NP_001073271.1:p.His612_Asp616delinsArgGlyIle
NM_001079804.3:c.1833_1847delinsACGGGGTAT	NP_001073272.1:p.His612_Asp616delinsArgGlyIle