Canonical Allele Identifier: CA114307
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 188861

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101428491_101428494del , CM000671.2:g.101428491_101428494del GRCh38
NC_000009.11:g.104190773_104190776del , CM000671.1:g.104190773_104190776del GRCh37
NC_000009.10:g.103230594_103230597del NCBI36
NG_012387.1:g.12293_12296del

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.360_363del MANE Select ENSP00000497767.1:p.Asn120LysfsTer?
ENST00000648064.1:c.360_363del ENSP00000497990.1:p.Asn120LysfsTer?
ENST00000648758.1:c.360_363del ENSP00000497731.1:p.Asn120LysfsTer?
ENST00000649902.1:c.360_363del ENSP00000497216.1:p.Asn120LysfsTer?
ENST00000374855.8:c.360_363del ENSP00000363988.4:p.Asn120LysfsTer?
ENST00000468981.3:n.67+1321_67+1324del
ENST00000616752.1:c.360_363del ENSP00000481363.1:p.Asn120LysfsTer?
NM_000035.3:c.360_363del NP_000026.2:p.Asn120LysfsTer?
NM_000035.4:c.360_363del MANE Select NP_000026.2:p.Asn120LysfsTer?