Canonical Allele Identifier: CA913191005

Gene: GAA

Linked Data

• ClinVar Variation Id: 597147
• ClinVar RCV Id: RCV000733177 ; RCV001265226
• dbSNP Id: rs1567829962
• ERepo: CA913191005/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108364_80108365del , CM000679.2:g.80108364_80108365del	GRCh38
NC_000017.10:g.78082163_78082164del , CM000679.1:g.78082163_78082164del	GRCh37
NC_000017.9:g.75696758_75696759del	NCBI36
NG_009822.1:g.11809_11810del , LRG_673:g.11809_11810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1030_1031del	ENSP00000460543.2:p.Gly344ProfsTer?
ENST00000572080.2:c.1030_1031del	ENSP00000459972.2:p.Gly344ProfsTer?
ENST00000577106.6:c.1030_1031del	ENSP00000458306.2:p.Gly344ProfsTer?
ENST00000302262.8:c.1030_1031del MANE Select	ENSP00000305692.3:p.Gly344ProfsTer?
ENST00000302262.7:c.1030_1031del	ENSP00000305692.3:p.Gly344ProfsTer?
ENST00000390015.7:c.1030_1031del	ENSP00000374665.3:p.Gly344ProfsTer?
NM_000152.3:c.1030_1031del , LRG_673t1:c.1030_1031del	NP_000143.2:p.Gly344ProfsTer?
NM_001079803.1:c.1030_1031del	NP_001073271.1:p.Gly344ProfsTer?
NM_001079804.1:c.1030_1031del	NP_001073272.1:p.Gly344ProfsTer?
XM_005257193.1:c.1030_1031del	XP_005257250.1:p.Gly344ProfsTer?
XM_005257194.3:c.1030_1031del	XP_005257251.1:p.Gly344ProfsTer?
NM_000152.4:c.1030_1031del	NP_000143.2:p.Gly344ProfsTer?
NM_001079803.2:c.1030_1031del	NP_001073271.1:p.Gly344ProfsTer?
NM_001079804.2:c.1030_1031del	NP_001073272.1:p.Gly344ProfsTer?
XM_005257193.2:c.1030_1031del	XP_005257250.1:p.Gly344ProfsTer?
XM_005257194.4:c.1030_1031del	XP_005257251.1:p.Gly344ProfsTer?
NM_000152.5:c.1030_1031del MANE Select	NP_000143.2:p.Gly344ProfsTer?
NM_001079803.3:c.1030_1031del	NP_001073271.1:p.Gly344ProfsTer?
NM_001079804.3:c.1030_1031del	NP_001073272.1:p.Gly344ProfsTer?