Canonical Allele Identifier: CA628018650
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 456404
ClinVar RCV Id: RCV000559933
dbSNP Id: rs1182634884

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117727_80117729del , CM000679.2:g.80117727_80117729del GRCh38
NC_000017.10:g.78091526_78091528del , CM000679.1:g.78091526_78091528del GRCh37
NC_000017.9:g.75706121_75706123del NCBI36
NG_009822.1:g.21172_21174del , LRG_673:g.21172_21174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2459_2461del ENSP00000460543.2:p.Ala820del
ENST00000572080.2:c.*597_*599del ENSP00000459972.2:n.*597_*599del
ENST00000577106.6:c.2459_2461del ENSP00000458306.2:p.Ala820del
ENST00000302262.8:c.2459_2461del MANE Select ENSP00000305692.3:p.Ala820del
ENST00000302262.7:c.2459_2461del ENSP00000305692.3:p.Ala820del
ENST00000390015.7:c.2459_2461del ENSP00000374665.3:p.Ala820del
ENST00000573556.1:n.412_414del
NM_000152.3:c.2459_2461del , LRG_673t1:c.2459_2461del NP_000143.2:p.Ala820del
NM_001079803.1:c.2459_2461del NP_001073271.1:p.Ala820del
NM_001079804.1:c.2459_2461del NP_001073272.1:p.Ala820del
XM_005257193.1:c.2459_2461del XP_005257250.1:p.Ala820del
XM_005257194.3:c.2459_2461del XP_005257251.1:p.Ala820del
NM_000152.4:c.2459_2461del NP_000143.2:p.Ala820del
NM_001079803.2:c.2459_2461del NP_001073271.1:p.Ala820del
NM_001079804.2:c.2459_2461del NP_001073272.1:p.Ala820del
XM_005257193.2:c.2459_2461del XP_005257250.1:p.Ala820del
XM_005257194.4:c.2459_2461del XP_005257251.1:p.Ala820del
NM_000152.5:c.2459_2461del MANE Select NP_000143.2:p.Ala820del
NM_001079803.3:c.2459_2461del NP_001073271.1:p.Ala820del
NM_001079804.3:c.2459_2461del NP_001073272.1:p.Ala820del