Canonical Allele Identifier: CA8815662
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 370651
ClinVar RCV Id: RCV000411023 RCV000524025
dbSNP Id: rs777275355
ExAC: 17:78090813 T / TG
gnomAD v2: 17-78090813-T-TG
gnomAD v3: 17-80117014-T-TG
gnomAD v4: 17-80117014-T-TG
MyVariant Identifiers: chr17:g.78090819dupG (hg19) chr17:g.78090813_78090814insG (hg19) chr17:g.80117020dupG (hg38) chr17:g.80117014_80117015insG (hg38)
ERepo: CA8815662/MONDO:0009290/010
PubMed: PMID:16917947
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117020dup , CM000679.2:g.80117020dup GRCh38
NC_000017.10:g.78090819dup , CM000679.1:g.78090819dup GRCh37
NC_000017.9:g.75705414dup NCBI36
NG_009822.1:g.20465dup , LRG_673:g.20465dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2242dup ENSP00000460543.2:p.Glu748GlyfsTer?
ENST00000572080.2:c.*380dup ENSP00000459972.2:n.*380dup
ENST00000577106.6:c.2242dup ENSP00000458306.2:p.Glu748GlyfsTer?
ENST00000302262.8:c.2242dup MANE Select ENSP00000305692.3:p.Glu748GlyfsTer?
ENST00000302262.7:c.2242dup ENSP00000305692.3:p.Glu748GlyfsTer?
ENST00000390015.7:c.2242dup ENSP00000374665.3:p.Glu748GlyfsTer?
ENST00000572080.1:c.661dup
ENST00000573556.1:n.195dup
NM_000152.3:c.2242dup , LRG_673t1:c.2242dup NP_000143.2:p.Glu748GlyfsTer?
NM_001079803.1:c.2242dup NP_001073271.1:p.Glu748GlyfsTer?
NM_001079804.1:c.2242dup NP_001073272.1:p.Glu748GlyfsTer?
XM_005257193.1:c.2242dup XP_005257250.1:p.Glu748GlyfsTer?
XM_005257194.3:c.2242dup XP_005257251.1:p.Glu748GlyfsTer?
NM_000152.4:c.2242dup NP_000143.2:p.Glu748GlyfsTer?
NM_001079803.2:c.2242dup NP_001073271.1:p.Glu748GlyfsTer?
NM_001079804.2:c.2242dup NP_001073272.1:p.Glu748GlyfsTer?
XM_005257193.2:c.2242dup XP_005257250.1:p.Glu748GlyfsTer?
XM_005257194.4:c.2242dup XP_005257251.1:p.Glu748GlyfsTer?
NM_000152.5:c.2242dup MANE Select NP_000143.2:p.Glu748GlyfsTer?
NM_001079803.3:c.2242dup NP_001073271.1:p.Glu748GlyfsTer?
NM_001079804.3:c.2242dup NP_001073272.1:p.Glu748GlyfsTer?
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