Canonical Allele Identifier: CA16041890
Gene: GAA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370510
ClinVar RCV Id: RCV000411138
dbSNP Id: rs1057516546

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108605dup , CM000679.2:g.80108605dup GRCh38
NC_000017.10:g.78082404dup , CM000679.1:g.78082404dup GRCh37
NC_000017.9:g.75696999dup NCBI36
NG_009822.1:g.12050dup , LRG_673:g.12050dup

Transcript Alleles

HGVS Amino-acid change
NM_000152.3:c.1192dup , LRG_673t1:c.1192dup NP_000143.2:p.Leu398ProfsTer?
NM_001079803.1:c.1192dup VV NP_001073271.1:p.Leu398ProfsTer?
NM_001079804.1:c.1192dup VV NP_001073272.1:p.Leu398ProfsTer?
XM_005257193.1:c.1192dup XP_005257250.1:p.Leu398ProfsTer?
XM_005257194.3:c.1192dup XP_005257251.1:p.Leu398ProfsTer?
NM_000152.4:c.1192dup VV NP_000143.2:p.Leu398ProfsTer?
NM_001079803.2:c.1192dup VV NP_001073271.1:p.Leu398ProfsTer?
NM_001079804.2:c.1192dup VV NP_001073272.1:p.Leu398ProfsTer?
XM_005257193.2:c.1192dup XP_005257250.1:p.Leu398ProfsTer?
XM_005257194.4:c.1192dup XP_005257251.1:p.Leu398ProfsTer?
NM_000152.5:c.1192dup VV MANE Preferred NP_000143.2:p.Leu398ProfsTer?
ENST00000302262.7:c.1192dup ENSP00000305692.3:p.Leu398ProfsTer?
ENST00000390015.7:c.1192dup ENSP00000374665.3:p.Leu398ProfsTer?