Canonical Allele Identifier: CA915952251
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 637962
ClinVar RCV Id: RCV000791249
dbSNP Id: rs1598578030
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108728_80108729insG , CM000679.2:g.80108728_80108729insG GRCh38
NC_000017.10:g.78082527_78082528insG , CM000679.1:g.78082527_78082528insG GRCh37
NC_000017.9:g.75697122_75697123insG NCBI36
NG_009822.1:g.12173_12174insG , LRG_673:g.12173_12174insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1226_1227insG ENSP00000460543.2:p.Asp409GlufsTer?
ENST00000572080.2:c.1226_1227insG ENSP00000459972.2:p.Asp409GlufsTer?
ENST00000577106.6:c.1226_1227insG ENSP00000458306.2:p.Asp409GlufsTer?
ENST00000302262.8:c.1226_1227insG MANE Select ENSP00000305692.3:p.Asp409GlufsTer?
ENST00000302262.7:c.1226_1227insG ENSP00000305692.3:p.Asp409GlufsTer?
ENST00000390015.7:c.1226_1227insG ENSP00000374665.3:p.Asp409GlufsTer?
NM_000152.3:c.1226_1227insG , LRG_673t1:c.1226_1227insG NP_000143.2:p.Asp409GlufsTer?
NM_001079803.1:c.1226_1227insG NP_001073271.1:p.Asp409GlufsTer?
NM_001079804.1:c.1226_1227insG NP_001073272.1:p.Asp409GlufsTer?
XM_005257193.1:c.1226_1227insG XP_005257250.1:p.Asp409GlufsTer?
XM_005257194.3:c.1226_1227insG XP_005257251.1:p.Asp409GlufsTer?
NM_000152.4:c.1226_1227insG NP_000143.2:p.Asp409GlufsTer?
NM_001079803.2:c.1226_1227insG NP_001073271.1:p.Asp409GlufsTer?
NM_001079804.2:c.1226_1227insG NP_001073272.1:p.Asp409GlufsTer?
XM_005257193.2:c.1226_1227insG XP_005257250.1:p.Asp409GlufsTer?
XM_005257194.4:c.1226_1227insG XP_005257251.1:p.Asp409GlufsTer?
NM_000152.5:c.1226_1227insG MANE Select NP_000143.2:p.Asp409GlufsTer?
NM_001079803.3:c.1226_1227insG NP_001073271.1:p.Asp409GlufsTer?
NM_001079804.3:c.1226_1227insG NP_001073272.1:p.Asp409GlufsTer?
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