Canonical Allele Identifier: CA916082444
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 860774
ClinVar RCV Id: RCV001067144 RCV001724225
dbSNP Id: rs2039213824
gnomAD v4: 17-80110749-T-TC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80110753dup , CM000679.2:g.80110753dup GRCh38
NC_000017.10:g.78084552dup , CM000679.1:g.78084552dup GRCh37
NC_000017.9:g.75699147dup NCBI36
NG_009822.1:g.14198dup , LRG_673:g.14198dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1464dup ENSP00000460543.2:p.Asp489ArgfsTer17
ENST00000572080.2:c.1464dup ENSP00000459972.2:p.Asp489ArgfsTer17
ENST00000577106.6:c.1464dup ENSP00000458306.2:p.Asp489ArgfsTer17
ENST00000302262.8:c.1464dup MANE Select ENSP00000305692.3:p.Asp489ArgfsTer17
ENST00000302262.7:c.1464dup ENSP00000305692.3:p.Asp489ArgfsTer17
ENST00000390015.7:c.1464dup ENSP00000374665.3:p.Asp489ArgfsTer17
NM_000152.3:c.1464dup , LRG_673t1:c.1464dup NP_000143.2:p.Asp489ArgfsTer17
NM_001079803.1:c.1464dup NP_001073271.1:p.Asp489ArgfsTer17
NM_001079804.1:c.1464dup NP_001073272.1:p.Asp489ArgfsTer17
XM_005257193.1:c.1464dup XP_005257250.1:p.Asp489ArgfsTer17
XM_005257194.3:c.1464dup XP_005257251.1:p.Asp489ArgfsTer17
NM_000152.4:c.1464dup NP_000143.2:p.Asp489ArgfsTer17
NM_001079803.2:c.1464dup NP_001073271.1:p.Asp489ArgfsTer17
NM_001079804.2:c.1464dup NP_001073272.1:p.Asp489ArgfsTer17
XM_005257193.2:c.1464dup XP_005257250.1:p.Asp489ArgfsTer17
XM_005257194.4:c.1464dup XP_005257251.1:p.Asp489ArgfsTer17
NM_000152.5:c.1464dup MANE Select NP_000143.2:p.Asp489ArgfsTer17
NM_001079803.3:c.1464dup NP_001073271.1:p.Asp489ArgfsTer17
NM_001079804.3:c.1464dup NP_001073272.1:p.Asp489ArgfsTer17
Search 100 bp 5'
Search 100 bp 3'