Canonical Allele Identifier: CA2573143647
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1456001
ClinVar RCV Id: RCV001950925
dbSNP Id: rs2118355498
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101427595del , CM000671.2:g.101427595del GRCh38
NC_000009.11:g.104189877del , CM000671.1:g.104189877del GRCh37
NC_000009.10:g.103229698del NCBI36
NG_012387.1:g.13186del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.427del MANE Select ENSP00000497767.1:p.Val143LeufsTer10
ENST00000648064.1:c.427del ENSP00000497990.1:p.Val143LeufsTer10
ENST00000648758.1:c.427del ENSP00000497731.1:p.Val143LeufsTer10
ENST00000649902.1:c.427del ENSP00000497216.1:p.Val143LeufsTer10
ENST00000374855.8:c.427del ENSP00000363988.4:p.Val143LeufsTer10
ENST00000468981.3:n.68-957del
ENST00000616752.1:c.427del ENSP00000481363.1:p.Val143LeufsTer10
NM_000035.3:c.427del NP_000026.2:p.Val143LeufsTer10
NM_000035.4:c.427del MANE Select NP_000026.2:p.Val143LeufsTer10
Search 100 bp 5'
Search 100 bp 3'