Canonical Allele Identifier: CA913184733
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1693551
ClinVar RCV Id: RCV002260944
dbSNP Id: rs2143874754

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80110991_80110994delinsAGG , CM000679.2:g.80110991_80110994delinsAGG GRCh38
NC_000017.10:g.78084790_78084793delinsAGG , CM000679.1:g.78084790_78084793delinsAGG GRCh37
NC_000017.9:g.75699385_75699388delinsAGG NCBI36
NG_009822.1:g.14436_14439delinsAGG , LRG_673:g.14436_14439delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1602_1605delinsAGG ENSP00000460543.2:p.Asn535GlyfsTer?
ENST00000572080.2:c.1602_1605delinsAGG ENSP00000459972.2:p.Asn535GlyfsTer?
ENST00000577106.6:c.1602_1605delinsAGG ENSP00000458306.2:p.Asn535GlyfsTer?
ENST00000302262.8:c.1602_1605delinsAGG MANE Select ENSP00000305692.3:p.Asn535GlyfsTer?
ENST00000302262.7:c.1602_1605delinsAGG ENSP00000305692.3:p.Asn535GlyfsTer?
ENST00000390015.7:c.1602_1605delinsAGG ENSP00000374665.3:p.Asn535GlyfsTer?
NM_000152.3:c.1602_1605delinsAGG , LRG_673t1:c.1602_1605delinsAGG NP_000143.2:p.Asn535GlyfsTer?
NM_001079803.1:c.1602_1605delinsAGG NP_001073271.1:p.Asn535GlyfsTer?
NM_001079804.1:c.1602_1605delinsAGG NP_001073272.1:p.Asn535GlyfsTer?
XM_005257193.1:c.1602_1605delinsAGG XP_005257250.1:p.Asn535GlyfsTer?
XM_005257194.3:c.1602_1605delinsAGG XP_005257251.1:p.Asn535GlyfsTer?
NM_000152.4:c.1602_1605delinsAGG NP_000143.2:p.Asn535GlyfsTer?
NM_001079803.2:c.1602_1605delinsAGG NP_001073271.1:p.Asn535GlyfsTer?
NM_001079804.2:c.1602_1605delinsAGG NP_001073272.1:p.Asn535GlyfsTer?
XM_005257193.2:c.1602_1605delinsAGG XP_005257250.1:p.Asn535GlyfsTer?
XM_005257194.4:c.1602_1605delinsAGG XP_005257251.1:p.Asn535GlyfsTer?
NM_000152.5:c.1602_1605delinsAGG MANE Select NP_000143.2:p.Asn535GlyfsTer?
NM_001079803.3:c.1602_1605delinsAGG NP_001073271.1:p.Asn535GlyfsTer?
NM_001079804.3:c.1602_1605delinsAGG NP_001073272.1:p.Asn535GlyfsTer?