Canonical Allele Identifier: CA8814879
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 596146
ClinVar RCV Id: RCV000731885 RCV001219022
dbSNP Id: rs764750389
ExAC: 17:78078864 TCC / T
gnomAD v2: 17-78078864-TCC-T
gnomAD v4: 17-80105065-TCC-T
MyVariant Identifiers: chr17:g.78078865_78078866del (hg19) chr17:g.80105066_80105067del (hg38)
ERepo: CA8814879/MONDO:0009290/010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80105068_80105069del , CM000679.2:g.80105068_80105069del GRCh38
NC_000017.10:g.78078867_78078868del , CM000679.1:g.78078867_78078868del GRCh37
NC_000017.9:g.75693462_75693463del NCBI36
NG_009822.1:g.8513_8514del , LRG_673:g.8513_8514del

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.482_483del ENSP00000460543.2:p.Pro161GlnfsTer15
ENST00000572080.2:c.482_483del ENSP00000459972.2:p.Pro161GlnfsTer15
ENST00000577106.6:c.482_483del ENSP00000458306.2:p.Pro161GlnfsTer15
ENST00000302262.8:c.482_483del MANE Select ENSP00000305692.3:p.Pro161GlnfsTer15
ENST00000302262.7:c.482_483del ENSP00000305692.3:p.Pro161GlnfsTer15
ENST00000390015.7:c.482_483del ENSP00000374665.3:p.Pro161GlnfsTer15
ENST00000570803.5:c.482_483del ENSP00000460543.1:p.Pro161GlnfsTer15
ENST00000577106.5:c.482_483del ENSP00000458306.1:p.Pro161GlnfsTer15
NM_000152.3:c.482_483del , LRG_673t1:c.482_483del NP_000143.2:p.Pro161GlnfsTer15
NM_001079803.1:c.482_483del NP_001073271.1:p.Pro161GlnfsTer15
NM_001079804.1:c.482_483del NP_001073272.1:p.Pro161GlnfsTer15
XM_005257193.1:c.482_483del XP_005257250.1:p.Pro161GlnfsTer15
XM_005257194.3:c.482_483del XP_005257251.1:p.Pro161GlnfsTer15
NM_000152.4:c.482_483del NP_000143.2:p.Pro161GlnfsTer15
NM_001079803.2:c.482_483del NP_001073271.1:p.Pro161GlnfsTer15
NM_001079804.2:c.482_483del NP_001073272.1:p.Pro161GlnfsTer15
XM_005257193.2:c.482_483del XP_005257250.1:p.Pro161GlnfsTer15
XM_005257194.4:c.482_483del XP_005257251.1:p.Pro161GlnfsTer15
NM_000152.5:c.482_483del MANE Select NP_000143.2:p.Pro161GlnfsTer15
NM_001079803.3:c.482_483del NP_001073271.1:p.Pro161GlnfsTer15
NM_001079804.3:c.482_483del NP_001073272.1:p.Pro161GlnfsTer15
Search 100 bp 5'
Search 100 bp 3'