Canonical Allele Identifier: CA658824780
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 550104
ClinVar RCV Id: RCV000664743
dbSNP Id: rs1555599637
gnomAD v4: 17-80107630-T-TC
MyVariant Identifiers: chr17:g.80107630_80107631insC (hg38)
ERepo: CA658824780/MONDO:0009290/010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80107630_80107631insC , CM000679.2:g.80107630_80107631insC GRCh38
NC_000017.10:g.78081429_78081430insC , CM000679.1:g.78081429_78081430insC GRCh37
NC_000017.9:g.75696024_75696025insC NCBI36
NG_009822.1:g.11075_11076insC , LRG_673:g.11075_11076insC

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.766_767insC ENSP00000460543.2:p.Tyr256SerfsTer?
ENST00000572080.2:c.766_767insC ENSP00000459972.2:p.Tyr256SerfsTer?
ENST00000577106.6:c.766_767insC ENSP00000458306.2:p.Tyr256SerfsTer?
ENST00000302262.8:c.766_767insC MANE Select ENSP00000305692.3:p.Tyr256SerfsTer?
ENST00000302262.7:c.766_767insC ENSP00000305692.3:p.Tyr256SerfsTer?
ENST00000390015.7:c.766_767insC ENSP00000374665.3:p.Tyr256SerfsTer?
ENST00000570803.5:c.766_767insC ENSP00000460543.1:p.Tyr256SerfsTer?
NM_000152.3:c.766_767insC , LRG_673t1:c.766_767insC NP_000143.2:p.Tyr256SerfsTer?
NM_001079803.1:c.766_767insC NP_001073271.1:p.Tyr256SerfsTer?
NM_001079804.1:c.766_767insC NP_001073272.1:p.Tyr256SerfsTer?
XM_005257193.1:c.766_767insC XP_005257250.1:p.Tyr256SerfsTer?
XM_005257194.3:c.766_767insC XP_005257251.1:p.Tyr256SerfsTer?
NM_000152.4:c.766_767insC NP_000143.2:p.Tyr256SerfsTer?
NM_001079803.2:c.766_767insC NP_001073271.1:p.Tyr256SerfsTer?
NM_001079804.2:c.766_767insC NP_001073272.1:p.Tyr256SerfsTer?
XM_005257193.2:c.766_767insC XP_005257250.1:p.Tyr256SerfsTer?
XM_005257194.4:c.766_767insC XP_005257251.1:p.Tyr256SerfsTer?
NM_000152.5:c.766_767insC MANE Select NP_000143.2:p.Tyr256SerfsTer?
NM_001079803.3:c.766_767insC NP_001073271.1:p.Tyr256SerfsTer?
NM_001079804.3:c.766_767insC NP_001073272.1:p.Tyr256SerfsTer?
Search 100 bp 5'
Search 100 bp 3'