Canonical Allele Identifier: CA2499219518

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 1065866
• ClinVar RCV Id: RCV001376720
• dbSNP Id: rs2118346335

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101425565del , CM000671.2:g.101425565del	GRCh38
NC_000009.11:g.104187847del , CM000671.1:g.104187847del	GRCh37
NC_000009.10:g.103227668del	NCBI36
NG_012387.1:g.15218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.689del MANE Select	ENSP00000497767.1:p.Lys230SerfsTer5
ENST00000648064.1:c.689del	ENSP00000497990.1:p.Lys230SerfsTer5
ENST00000648758.1:c.689del	ENSP00000497731.1:p.Lys230SerfsTer5
ENST00000649902.1:c.689del	ENSP00000497216.1:p.Lys230SerfsTer5
ENST00000374855.8:c.689del	ENSP00000363988.4:p.Lys230SerfsTer5
ENST00000468981.3:n.216del
ENST00000616752.1:c.689del	ENSP00000481363.1:p.Lys230SerfsTer5
NM_000035.3:c.689del	NP_000026.2:p.Lys230SerfsTer5
NM_000035.4:c.689del MANE Select	NP_000026.2:p.Lys230SerfsTer5