Canonical Allele Identifier: CA114305
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 466
ClinVar RCV Id: RCV000000495
dbSNP Id: rs118204425

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101424975_101424977del , CM000671.2:g.101424975_101424977del GRCh38
NC_000009.11:g.104187257_104187259del , CM000671.1:g.104187257_104187259del GRCh37
NC_000009.10:g.103227078_103227080del NCBI36
NG_012387.1:g.15804_15806del

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.865_867del MANE Select ENSP00000497767.1:p.Leu289del
ENST00000648064.1:c.865_867del ENSP00000497990.1:p.Leu289del
ENST00000648758.1:c.865_867del ENSP00000497731.1:p.Leu289del
ENST00000649902.1:c.865_867del ENSP00000497216.1:p.Leu289del
ENST00000374855.8:c.865_867del ENSP00000363988.4:p.Leu289del
ENST00000616752.1:c.865_867del ENSP00000481363.1:p.Leu289del
NM_000035.3:c.865_867del NP_000026.2:p.Leu289del
NM_000035.4:c.865_867del MANE Select NP_000026.2:p.Leu289del