Canonical Allele Identifier: CA2499219521

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 1065863
• ClinVar RCV Id: RCV001376717
• dbSNP Id: rs2118362762

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429933del , CM000671.2:g.101429933del	GRCh38
NC_000009.11:g.104192215del , CM000671.1:g.104192215del	GRCh37
NC_000009.10:g.103232036del	NCBI36
NG_012387.1:g.10848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.146del MANE Select	ENSP00000497767.1:p.Val49GlyfsTer29
ENST00000648064.1:c.146del	ENSP00000497990.1:p.Val49GlyfsTer29
ENST00000648423.1:c.146del	ENSP00000497985.1:p.Val49GlyfsTer?
ENST00000648758.1:c.146del	ENSP00000497731.1:p.Val49GlyfsTer29
ENST00000648906.1:n.316del
ENST00000649902.1:c.146del	ENSP00000497216.1:p.Val49GlyfsTer29
ENST00000650613.1:n.222del
ENST00000374855.8:c.146del	ENSP00000363988.4:p.Val49GlyfsTer29
ENST00000616752.1:c.146del	ENSP00000481363.1:p.Val49GlyfsTer29
NM_000035.3:c.146del	NP_000026.2:p.Val49GlyfsTer29
NM_000035.4:c.146del MANE Select	NP_000026.2:p.Val49GlyfsTer29