Canonical Allele Identifier: CA658824792
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 550028
ClinVar RCV Id: RCV000664646
dbSNP Id: rs1555603283
MyVariant Identifiers: chr17:g.80118763del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118763del , CM000679.2:g.80118763del GRCh38
NC_000017.10:g.78092562del , CM000679.1:g.78092562del GRCh37
NC_000017.9:g.75707157del NCBI36
NG_009822.1:g.22208del , LRG_673:g.22208del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2757del ENSP00000460543.2:p.Asn919LysfsTer24
ENST00000572080.2:c.*895del ENSP00000459972.2:n.*895del
ENST00000577106.6:c.2757del ENSP00000458306.2:p.Asn919LysfsTer24
ENST00000302262.8:c.2757del MANE Select ENSP00000305692.3:p.Asn919LysfsTer24
ENST00000302262.7:c.2757del ENSP00000305692.3:p.Asn919LysfsTer24
ENST00000390015.7:c.2757del ENSP00000374665.3:p.Asn919LysfsTer24
ENST00000573556.1:n.710del
NM_000152.3:c.2757del , LRG_673t1:c.2757del NP_000143.2:p.Asn919LysfsTer24
NM_001079803.1:c.2757del NP_001073271.1:p.Asn919LysfsTer24
NM_001079804.1:c.2757del NP_001073272.1:p.Asn919LysfsTer24
XM_005257193.1:c.2757del XP_005257250.1:p.Asn919LysfsTer24
XM_005257194.3:c.2757del XP_005257251.1:p.Asn919LysfsTer24
NM_000152.4:c.2757del NP_000143.2:p.Asn919LysfsTer24
NM_001079803.2:c.2757del NP_001073271.1:p.Asn919LysfsTer24
NM_001079804.2:c.2757del NP_001073272.1:p.Asn919LysfsTer24
XM_005257193.2:c.2757del XP_005257250.1:p.Asn919LysfsTer24
XM_005257194.4:c.2757del XP_005257251.1:p.Asn919LysfsTer24
NM_000152.5:c.2757del MANE Select NP_000143.2:p.Asn919LysfsTer24
NM_001079803.3:c.2757del NP_001073271.1:p.Asn919LysfsTer24
NM_001079804.3:c.2757del NP_001073272.1:p.Asn919LysfsTer24
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