Canonical Allele Identifier: CA10654927
Gene: GAA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369944
ClinVar RCV Id: RCV000408809
dbSNP Id: rs1057516189

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118710_80118722dup , CM000679.2:g.80118710_80118722dup GRCh38
NC_000017.10:g.78092509_78092521dup , CM000679.1:g.78092509_78092521dup GRCh37
NC_000017.9:g.75707104_75707116dup NCBI36
NG_009822.1:g.22155_22167dup , LRG_673:g.22155_22167dup

Transcript Alleles

HGVS Amino-acid change
NM_000152.3:c.2704_2716dup , LRG_673t1:c.2704_2716dup NP_000143.2:p.Val906AlafsTer?
NM_001079803.1:c.2704_2716dup VV NP_001073271.1:p.Val906AlafsTer?
NM_001079804.1:c.2704_2716dup VV NP_001073272.1:p.Val906AlafsTer?
XM_005257193.1:c.2704_2716dup XP_005257250.1:p.Val906AlafsTer?
XM_005257194.3:c.2704_2716dup XP_005257251.1:p.Val906AlafsTer?
NM_000152.4:c.2704_2716dup VV
NM_001079803.2:c.2704_2716dup VV
NM_001079804.2:c.2704_2716dup VV
XM_005257193.2:c.2704_2716dup
XM_005257194.4:c.2704_2716dup
ENST00000302262.7:c.2704_2716dup ENSP00000305692.3:p.Val906AlafsTer?
ENST00000390015.7:c.2704_2716dup ENSP00000374665.3:p.Val906AlafsTer?
ENST00000573556.1:n.657_669dup