Canonical Allele Identifier: CA16041286
Gene: ALDOB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371627
ClinVar RCV Id: RCV000411375
dbSNP Id: rs1057517421

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101427604del , CM000671.2:g.101427604del GRCh38
NC_000009.11:g.104189886del , CM000671.1:g.104189886del GRCh37
NC_000009.10:g.103229707del NCBI36
NG_012387.1:g.13179del

Transcript Alleles

HGVS Amino-acid change
NM_000035.3:c.420del VV NP_000026.2:p.Asp141MetfsTer12
NM_000035.4:c.420del VV
ENST00000374855.8:c.420del ENSP00000363988.4:p.Asp141MetfsTer12
ENST00000468981.3:n.68-964del
ENST00000616752.1:c.420del ENSP00000481363.1:p.Asp141MetfsTer12