Canonical Allele Identifier: CA2695227096
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2880685
ClinVar RCV Id: RCV003610681
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118747delinsCAG , CM000679.2:g.80118747delinsCAG GRCh38
NC_000017.10:g.78092546delinsCAG , CM000679.1:g.78092546delinsCAG GRCh37
NC_000017.9:g.75707141delinsCAG NCBI36
NG_009822.1:g.22192delinsCAG , LRG_673:g.22192delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2741delinsCAG ENSP00000460543.2:p.Gln914ProfsTer30
ENST00000572080.2:c.*879delinsCAG ENSP00000459972.2:n.*879delinsCAG
ENST00000577106.6:c.2741delinsCAG ENSP00000458306.2:p.Gln914ProfsTer30
ENST00000302262.8:c.2741delinsCAG MANE Select ENSP00000305692.3:p.Gln914ProfsTer30
ENST00000302262.7:c.2741delinsCAG ENSP00000305692.3:p.Gln914ProfsTer30
ENST00000390015.7:c.2741delinsCAG ENSP00000374665.3:p.Gln914ProfsTer30
ENST00000573556.1:n.694delinsCAG
NM_000152.3:c.2741delinsCAG , LRG_673t1:c.2741delinsCAG NP_000143.2:p.Gln914ProfsTer30
NM_001079803.1:c.2741delinsCAG NP_001073271.1:p.Gln914ProfsTer30
NM_001079804.1:c.2741delinsCAG NP_001073272.1:p.Gln914ProfsTer30
XM_005257193.1:c.2741delinsCAG XP_005257250.1:p.Gln914ProfsTer30
XM_005257194.3:c.2741delinsCAG XP_005257251.1:p.Gln914ProfsTer30
NM_000152.4:c.2741delinsCAG NP_000143.2:p.Gln914ProfsTer30
NM_001079803.2:c.2741delinsCAG NP_001073271.1:p.Gln914ProfsTer30
NM_001079804.2:c.2741delinsCAG NP_001073272.1:p.Gln914ProfsTer30
XM_005257193.2:c.2741delinsCAG XP_005257250.1:p.Gln914ProfsTer30
XM_005257194.4:c.2741delinsCAG XP_005257251.1:p.Gln914ProfsTer30
NM_000152.5:c.2741delinsCAG MANE Select NP_000143.2:p.Gln914ProfsTer30
NM_001079803.3:c.2741delinsCAG NP_001073271.1:p.Gln914ProfsTer30
NM_001079804.3:c.2741delinsCAG NP_001073272.1:p.Gln914ProfsTer30
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