Canonical Allele Identifier: CA2573154955
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1451590
ClinVar RCV Id: RCV002007302
dbSNP Id: rs2143854659
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108504del , CM000679.2:g.80108504del GRCh38
NC_000017.10:g.78082303del , CM000679.1:g.78082303del GRCh37
NC_000017.9:g.75696898del NCBI36
NG_009822.1:g.11949del , LRG_673:g.11949del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1091del ENSP00000460543.2:p.Pro364ArgfsTer28
ENST00000572080.2:c.1091del ENSP00000459972.2:p.Pro364ArgfsTer28
ENST00000577106.6:c.1091del ENSP00000458306.2:p.Pro364ArgfsTer28
ENST00000302262.8:c.1091del MANE Select ENSP00000305692.3:p.Pro364ArgfsTer28
ENST00000302262.7:c.1091del ENSP00000305692.3:p.Pro364ArgfsTer28
ENST00000390015.7:c.1091del ENSP00000374665.3:p.Pro364ArgfsTer28
NM_000152.3:c.1091del , LRG_673t1:c.1091del NP_000143.2:p.Pro364ArgfsTer28
NM_001079803.1:c.1091del NP_001073271.1:p.Pro364ArgfsTer28
NM_001079804.1:c.1091del NP_001073272.1:p.Pro364ArgfsTer28
XM_005257193.1:c.1091del XP_005257250.1:p.Pro364ArgfsTer28
XM_005257194.3:c.1091del XP_005257251.1:p.Pro364ArgfsTer28
NM_000152.4:c.1091del NP_000143.2:p.Pro364ArgfsTer28
NM_001079803.2:c.1091del NP_001073271.1:p.Pro364ArgfsTer28
NM_001079804.2:c.1091del NP_001073272.1:p.Pro364ArgfsTer28
XM_005257193.2:c.1091del XP_005257250.1:p.Pro364ArgfsTer28
XM_005257194.4:c.1091del XP_005257251.1:p.Pro364ArgfsTer28
NM_000152.5:c.1091del MANE Select NP_000143.2:p.Pro364ArgfsTer28
NM_001079803.3:c.1091del NP_001073271.1:p.Pro364ArgfsTer28
NM_001079804.3:c.1091del NP_001073272.1:p.Pro364ArgfsTer28
Search 100 bp 5'
Search 100 bp 3'