Canonical Allele Identifier: CA2573154961
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1451418
ClinVar RCV Id: RCV001993248
dbSNP Id: rs2143858151
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108800_80108803delinsTCCTGCACCATGGC , CM000679.2:g.80108800_80108803delinsTCCTGCACCATGGC GRCh38
NC_000017.10:g.78082599_78082602delinsTCCTGCACCATGGC , CM000679.1:g.78082599_78082602delinsTCCTGCACCATGGC GRCh37
NC_000017.9:g.75697194_75697197delinsTCCTGCACCATGGC NCBI36
NG_009822.1:g.12245_12248delinsTCCTGCACCATGGC , LRG_673:g.12245_12248delinsTCCTGCACCATGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1298_1301delinsTCCTGCACCATGGC ENSP00000460543.2:p.Gln433LeufsTer?
ENST00000572080.2:c.1298_1301delinsTCCTGCACCATGGC ENSP00000459972.2:p.Gln433LeufsTer?
ENST00000577106.6:c.1298_1301delinsTCCTGCACCATGGC ENSP00000458306.2:p.Gln433LeufsTer?
ENST00000302262.8:c.1298_1301delinsTCCTGCACCATGGC MANE Select ENSP00000305692.3:p.Gln433LeufsTer?
ENST00000302262.7:c.1298_1301delinsTCCTGCACCATGGC ENSP00000305692.3:p.Gln433LeufsTer?
ENST00000390015.7:c.1298_1301delinsTCCTGCACCATGGC ENSP00000374665.3:p.Gln433LeufsTer?
NM_000152.3:c.1298_1301delinsTCCTGCACCATGGC , LRG_673t1:c.1298_1301delinsTCCTGCACCATGGC NP_000143.2:p.Gln433LeufsTer?
NM_001079803.1:c.1298_1301delinsTCCTGCACCATGGC NP_001073271.1:p.Gln433LeufsTer?
NM_001079804.1:c.1298_1301delinsTCCTGCACCATGGC NP_001073272.1:p.Gln433LeufsTer?
XM_005257193.1:c.1298_1301delinsTCCTGCACCATGGC XP_005257250.1:p.Gln433LeufsTer?
XM_005257194.3:c.1298_1301delinsTCCTGCACCATGGC XP_005257251.1:p.Gln433LeufsTer?
NM_000152.4:c.1298_1301delinsTCCTGCACCATGGC NP_000143.2:p.Gln433LeufsTer?
NM_001079803.2:c.1298_1301delinsTCCTGCACCATGGC NP_001073271.1:p.Gln433LeufsTer?
NM_001079804.2:c.1298_1301delinsTCCTGCACCATGGC NP_001073272.1:p.Gln433LeufsTer?
XM_005257193.2:c.1298_1301delinsTCCTGCACCATGGC XP_005257250.1:p.Gln433LeufsTer?
XM_005257194.4:c.1298_1301delinsTCCTGCACCATGGC XP_005257251.1:p.Gln433LeufsTer?
NM_000152.5:c.1298_1301delinsTCCTGCACCATGGC MANE Select NP_000143.2:p.Gln433LeufsTer?
NM_001079803.3:c.1298_1301delinsTCCTGCACCATGGC NP_001073271.1:p.Gln433LeufsTer?
NM_001079804.3:c.1298_1301delinsTCCTGCACCATGGC NP_001073272.1:p.Gln433LeufsTer?
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