Canonical Allele Identifier: CA2277814225
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs2039224932
gnomAD v4: 17-80111012-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80111015del , CM000679.2:g.80111015del GRCh38
NC_000017.10:g.78084814del , CM000679.1:g.78084814del GRCh37
NC_000017.9:g.75699409del NCBI36
NG_009822.1:g.14460del , LRG_673:g.14460del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1626del ENSP00000460543.2:p.Tyr543ThrfsTer?
ENST00000572080.2:c.1626del ENSP00000459972.2:p.Tyr543ThrfsTer?
ENST00000577106.6:c.1626del ENSP00000458306.2:p.Tyr543ThrfsTer?
ENST00000302262.8:c.1626del MANE Select ENSP00000305692.3:p.Tyr543ThrfsTer?
ENST00000302262.7:c.1626del ENSP00000305692.3:p.Tyr543ThrfsTer?
ENST00000390015.7:c.1626del ENSP00000374665.3:p.Tyr543ThrfsTer?
ENST00000572080.1:c.14del
NM_000152.3:c.1626del , LRG_673t1:c.1626del NP_000143.2:p.Tyr543ThrfsTer?
NM_001079803.1:c.1626del NP_001073271.1:p.Tyr543ThrfsTer?
NM_001079804.1:c.1626del NP_001073272.1:p.Tyr543ThrfsTer?
XM_005257193.1:c.1626del XP_005257250.1:p.Tyr543ThrfsTer?
XM_005257194.3:c.1626del XP_005257251.1:p.Tyr543ThrfsTer?
NM_000152.4:c.1626del NP_000143.2:p.Tyr543ThrfsTer?
NM_001079803.2:c.1626del NP_001073271.1:p.Tyr543ThrfsTer?
NM_001079804.2:c.1626del NP_001073272.1:p.Tyr543ThrfsTer?
XM_005257193.2:c.1626del XP_005257250.1:p.Tyr543ThrfsTer?
XM_005257194.4:c.1626del XP_005257251.1:p.Tyr543ThrfsTer?
NM_000152.5:c.1626del MANE Select NP_000143.2:p.Tyr543ThrfsTer?
NM_001079803.3:c.1626del NP_001073271.1:p.Tyr543ThrfsTer?
NM_001079804.3:c.1626del NP_001073272.1:p.Tyr543ThrfsTer?
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