Canonical Allele Identifier: CA2580095299
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1716223
ClinVar RCV Id: RCV002303301
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108292_80108293delinsAG , CM000679.2:g.80108292_80108293delinsAG GRCh38
NC_000017.10:g.78082091_78082092delinsAG , CM000679.1:g.78082091_78082092delinsAG GRCh37
NC_000017.9:g.75696686_75696687delinsAG NCBI36
NG_009822.1:g.11737_11738delinsAG , LRG_673:g.11737_11738delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.958_959delinsAG ENSP00000460543.2:p.Val320Arg
ENST00000572080.2:c.958_959delinsAG ENSP00000459972.2:p.Val320Arg
ENST00000577106.6:c.958_959delinsAG ENSP00000458306.2:p.Val320Arg
ENST00000302262.8:c.958_959delinsAG MANE Select ENSP00000305692.3:p.Val320Arg
ENST00000302262.7:c.958_959delinsAG ENSP00000305692.3:p.Val320Arg
ENST00000390015.7:c.958_959delinsAG ENSP00000374665.3:p.Val320Arg
NM_000152.3:c.958_959delinsAG , LRG_673t1:c.958_959delinsAG NP_000143.2:p.Val320Arg
NM_001079803.1:c.958_959delinsAG NP_001073271.1:p.Val320Arg
NM_001079804.1:c.958_959delinsAG NP_001073272.1:p.Val320Arg
XM_005257193.1:c.958_959delinsAG XP_005257250.1:p.Val320Arg
XM_005257194.3:c.958_959delinsAG XP_005257251.1:p.Val320Arg
NM_000152.4:c.958_959delinsAG NP_000143.2:p.Val320Arg
NM_001079803.2:c.958_959delinsAG NP_001073271.1:p.Val320Arg
NM_001079804.2:c.958_959delinsAG NP_001073272.1:p.Val320Arg
XM_005257193.2:c.958_959delinsAG XP_005257250.1:p.Val320Arg
XM_005257194.4:c.958_959delinsAG XP_005257251.1:p.Val320Arg
NM_000152.5:c.958_959delinsAG MANE Select NP_000143.2:p.Val320Arg
NM_001079803.3:c.958_959delinsAG NP_001073271.1:p.Val320Arg
NM_001079804.3:c.958_959delinsAG NP_001073272.1:p.Val320Arg
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