Canonical Allele Identifier: CA2573154958
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1434761
ClinVar RCV Id: RCV001955091
dbSNP Id: rs2143920189
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117091_80117100del , CM000679.2:g.80117091_80117100del GRCh38
NC_000017.10:g.78090890_78090899del , CM000679.1:g.78090890_78090899del GRCh37
NC_000017.9:g.75705485_75705494del NCBI36
NG_009822.1:g.20536_20545del , LRG_673:g.20536_20545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2313_2322del ENSP00000460543.2:p.Trp772CysfsTer6
ENST00000572080.2:c.*451_*460del ENSP00000459972.2:n.*451_*460del
ENST00000577106.6:c.2313_2322del ENSP00000458306.2:p.Trp772CysfsTer6
ENST00000302262.8:c.2313_2322del MANE Select ENSP00000305692.3:p.Trp772CysfsTer6
ENST00000302262.7:c.2313_2322del ENSP00000305692.3:p.Trp772CysfsTer6
ENST00000390015.7:c.2313_2322del ENSP00000374665.3:p.Trp772CysfsTer6
ENST00000573556.1:n.266_275del
NM_000152.3:c.2313_2322del , LRG_673t1:c.2313_2322del NP_000143.2:p.Trp772CysfsTer6
NM_001079803.1:c.2313_2322del NP_001073271.1:p.Trp772CysfsTer6
NM_001079804.1:c.2313_2322del NP_001073272.1:p.Trp772CysfsTer6
XM_005257193.1:c.2313_2322del XP_005257250.1:p.Trp772CysfsTer6
XM_005257194.3:c.2313_2322del XP_005257251.1:p.Trp772CysfsTer6
NM_000152.4:c.2313_2322del NP_000143.2:p.Trp772CysfsTer6
NM_001079803.2:c.2313_2322del NP_001073271.1:p.Trp772CysfsTer6
NM_001079804.2:c.2313_2322del NP_001073272.1:p.Trp772CysfsTer6
XM_005257193.2:c.2313_2322del XP_005257250.1:p.Trp772CysfsTer6
XM_005257194.4:c.2313_2322del XP_005257251.1:p.Trp772CysfsTer6
NM_000152.5:c.2313_2322del MANE Select NP_000143.2:p.Trp772CysfsTer6
NM_001079803.3:c.2313_2322del NP_001073271.1:p.Trp772CysfsTer6
NM_001079804.3:c.2313_2322del NP_001073272.1:p.Trp772CysfsTer6
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