Canonical Allele Identifier: CA5161505
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 939513
ClinVar RCV Id: RCV001208927
dbSNP Id: rs758133069
ExAC: 9:104187860 TC / T
gnomAD v2: 9-104187860-TC-T
gnomAD v3: 9-101425578-TC-T
gnomAD v4: 9-101425578-TC-T
MyVariant Identifiers: chr9:g.104187861del (hg19) chr9:g.101425579del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101425580del , CM000671.2:g.101425580del GRCh38
NC_000009.11:g.104187862del , CM000671.1:g.104187862del GRCh37
NC_000009.10:g.103227683del NCBI36
NG_012387.1:g.15202del

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.673del MANE Select ENSP00000497767.1:p.Glu225ArgfsTer5
ENST00000648064.1:c.673del ENSP00000497990.1:p.Glu225ArgfsTer5
ENST00000648758.1:c.673del ENSP00000497731.1:p.Glu225ArgfsTer5
ENST00000649902.1:c.673del ENSP00000497216.1:p.Glu225ArgfsTer5
ENST00000374855.8:c.673del ENSP00000363988.4:p.Glu225ArgfsTer5
ENST00000468981.3:n.200del
ENST00000616752.1:c.673del ENSP00000481363.1:p.Glu225ArgfsTer5
NM_000035.3:c.673del NP_000026.2:p.Glu225ArgfsTer5
NM_000035.4:c.673del MANE Select NP_000026.2:p.Glu225ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'