Canonical Allele Identifier: CA2277812649
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2573372
ClinVar RCV Id: RCV003317708
dbSNP Id: rs2039141441
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108285_80108291del , CM000679.2:g.80108285_80108291del GRCh38
NC_000017.10:g.78082084_78082090del , CM000679.1:g.78082084_78082090del GRCh37
NC_000017.9:g.75696679_75696685del NCBI36
NG_009822.1:g.11730_11736del , LRG_673:g.11730_11736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.956-5_957del
ENST00000572080.2:c.956-5_957del
ENST00000577106.6:c.956-5_957del
ENST00000302262.8:c.956-5_957del
ENST00000302262.7:c.956-5_957del
ENST00000390015.7:c.956-5_957del
NM_000152.3:c.956-5_957del , LRG_673t1:c.956-5_957del
NM_001079803.1:c.956-5_957del
NM_001079804.1:c.956-5_957del
XM_005257193.1:c.956-5_957del
XM_005257194.3:c.956-5_957del
NM_000152.4:c.956-5_957del
NM_001079803.2:c.956-5_957del
NM_001079804.2:c.956-5_957del
XM_005257193.2:c.956-5_957del
XM_005257194.4:c.956-5_957del
NM_000152.5:c.956-5_957del
NM_001079803.3:c.956-5_957del
NM_001079804.3:c.956-5_957del
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