Canonical Allele Identifier: CA2640286697
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2839746
ClinVar RCV Id: RCV003608761
gnomAD v4: 17-80108773-TC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108776del , CM000679.2:g.80108776del GRCh38
NC_000017.10:g.78082575del , CM000679.1:g.78082575del GRCh37
NC_000017.9:g.75697170del NCBI36
NG_009822.1:g.12221del , LRG_673:g.12221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1274del ENSP00000460543.2:p.Pro425ArgfsTer15
ENST00000572080.2:c.1274del ENSP00000459972.2:p.Pro425ArgfsTer15
ENST00000577106.6:c.1274del ENSP00000458306.2:p.Pro425ArgfsTer15
ENST00000302262.8:c.1274del MANE Select ENSP00000305692.3:p.Pro425ArgfsTer15
ENST00000302262.7:c.1274del ENSP00000305692.3:p.Pro425ArgfsTer15
ENST00000390015.7:c.1274del ENSP00000374665.3:p.Pro425ArgfsTer15
NM_000152.3:c.1274del , LRG_673t1:c.1274del NP_000143.2:p.Pro425ArgfsTer15
NM_001079803.1:c.1274del NP_001073271.1:p.Pro425ArgfsTer15
NM_001079804.1:c.1274del NP_001073272.1:p.Pro425ArgfsTer15
XM_005257193.1:c.1274del XP_005257250.1:p.Pro425ArgfsTer15
XM_005257194.3:c.1274del XP_005257251.1:p.Pro425ArgfsTer15
NM_000152.4:c.1274del NP_000143.2:p.Pro425ArgfsTer15
NM_001079803.2:c.1274del NP_001073271.1:p.Pro425ArgfsTer15
NM_001079804.2:c.1274del NP_001073272.1:p.Pro425ArgfsTer15
XM_005257193.2:c.1274del XP_005257250.1:p.Pro425ArgfsTer15
XM_005257194.4:c.1274del XP_005257251.1:p.Pro425ArgfsTer15
NM_000152.5:c.1274del MANE Select NP_000143.2:p.Pro425ArgfsTer15
NM_001079803.3:c.1274del NP_001073271.1:p.Pro425ArgfsTer15
NM_001079804.3:c.1274del NP_001073272.1:p.Pro425ArgfsTer15
Search 100 bp 5'
Search 100 bp 3'