Canonical Allele Identifier: CA2720258163
Gene: ALDOB HGNC NCBI

Linked Data

dbSNP Id: rs2118346667

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101425587del , CM000671.2:g.101425587del GRCh38
NC_000009.11:g.104187869del , CM000671.1:g.104187869del GRCh37
NC_000009.10:g.103227690del NCBI36
NG_012387.1:g.15196del

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.667del MANE Select ENSP00000497767.1:p.Tyr223ThrfsTer7
ENST00000648064.1:c.667del ENSP00000497990.1:p.Tyr223ThrfsTer7
ENST00000648758.1:c.667del ENSP00000497731.1:p.Tyr223ThrfsTer7
ENST00000649902.1:c.667del ENSP00000497216.1:p.Tyr223ThrfsTer7
ENST00000374855.8:c.667del ENSP00000363988.4:p.Tyr223ThrfsTer7
ENST00000468981.3:n.194del
ENST00000616752.1:c.667del ENSP00000481363.1:p.Tyr223ThrfsTer7
NM_000035.3:c.667del NP_000026.2:p.Tyr223ThrfsTer7
NM_000035.4:c.667del MANE Select NP_000026.2:p.Tyr223ThrfsTer7