Canonical Allele Identifier: CA16041896
Gene: GAA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370866
ClinVar RCV Id: RCV000409565
dbSNP Id: rs1057516826

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80112647_80112651dup , CM000679.2:g.80112647_80112651dup GRCh38
NC_000017.10:g.78086446_78086450dup , CM000679.1:g.78086446_78086450dup GRCh37
NC_000017.9:g.75701041_75701045dup NCBI36
NG_009822.1:g.16092_16096dup , LRG_673:g.16092_16096dup

Transcript Alleles

HGVS Amino-acid change
NM_000152.3:c.1824_1828dup , LRG_673t1:c.1824_1828dup NP_000143.2:p.Ala610AspfsTer?
NM_001079803.1:c.1824_1828dup VV NP_001073271.1:p.Ala610AspfsTer?
NM_001079804.1:c.1824_1828dup VV NP_001073272.1:p.Ala610AspfsTer?
XM_005257193.1:c.1824_1828dup XP_005257250.1:p.Ala610AspfsTer?
XM_005257194.3:c.1824_1828dup XP_005257251.1:p.Ala610AspfsTer?
NM_000152.4:c.1824_1828dup VV NP_000143.2:p.Ala610AspfsTer?
NM_001079803.2:c.1824_1828dup VV NP_001073271.1:p.Ala610AspfsTer?
NM_001079804.2:c.1824_1828dup VV NP_001073272.1:p.Ala610AspfsTer?
XM_005257193.2:c.1824_1828dup XP_005257250.1:p.Ala610AspfsTer?
XM_005257194.4:c.1824_1828dup XP_005257251.1:p.Ala610AspfsTer?
NM_000152.5:c.1824_1828dup VV MANE Preferred NP_000143.2:p.Ala610AspfsTer?
ENST00000302262.7:c.1824_1828dup ENSP00000305692.3:p.Ala610AspfsTer?
ENST00000390015.7:c.1824_1828dup ENSP00000374665.3:p.Ala610AspfsTer?
ENST00000570716.1:n.264_268dup
ENST00000572080.1:n.212_216dup
ENST00000572803.1:n.438_442dup