Canonical Allele Identifier: CA16041905
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 370993
dbSNP Id: rs1057516924

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117059delinsAT , CM000679.2:g.80117059delinsAT GRCh38
NC_000017.10:g.78090858delinsAT , CM000679.1:g.78090858delinsAT GRCh37
NC_000017.9:g.75705453delinsAT NCBI36
NG_009822.1:g.20504delinsAT , LRG_673:g.20504delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2281delinsAT ENSP00000460543.2:p.Ala761IlefsTer?
ENST00000572080.2:c.*419delinsAT ENSP00000459972.2:n.*419delinsAT
ENST00000577106.6:c.2281delinsAT ENSP00000458306.2:p.Ala761IlefsTer?
ENST00000302262.8:c.2281delinsAT MANE Select ENSP00000305692.3:p.Ala761IlefsTer?
ENST00000302262.7:c.2281delinsAT ENSP00000305692.3:p.Ala761IlefsTer?
ENST00000390015.7:c.2281delinsAT ENSP00000374665.3:p.Ala761IlefsTer?
ENST00000572080.1:c.700delinsAT
ENST00000573556.1:n.234delinsAT
NM_000152.3:c.2281delinsAT , LRG_673t1:c.2281delinsAT NP_000143.2:p.Ala761IlefsTer?
NM_001079803.1:c.2281delinsAT NP_001073271.1:p.Ala761IlefsTer?
NM_001079804.1:c.2281delinsAT NP_001073272.1:p.Ala761IlefsTer?
XM_005257193.1:c.2281delinsAT XP_005257250.1:p.Ala761IlefsTer?
XM_005257194.3:c.2281delinsAT XP_005257251.1:p.Ala761IlefsTer?
NM_000152.4:c.2281delinsAT NP_000143.2:p.Ala761IlefsTer?
NM_001079803.2:c.2281delinsAT NP_001073271.1:p.Ala761IlefsTer?
NM_001079804.2:c.2281delinsAT NP_001073272.1:p.Ala761IlefsTer?
XM_005257193.2:c.2281delinsAT XP_005257250.1:p.Ala761IlefsTer?
XM_005257194.4:c.2281delinsAT XP_005257251.1:p.Ala761IlefsTer?
NM_000152.5:c.2281delinsAT MANE Select NP_000143.2:p.Ala761IlefsTer?
NM_001079803.3:c.2281delinsAT NP_001073271.1:p.Ala761IlefsTer?
NM_001079804.3:c.2281delinsAT NP_001073272.1:p.Ala761IlefsTer?