Canonical Allele Identifier: CA2573143651

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 1379379
• ClinVar RCV Id: RCV001914843
• dbSNP Id: rs2118362340

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429856dup , CM000671.2:g.101429856dup	GRCh38
NC_000009.11:g.104192138dup , CM000671.1:g.104192138dup	GRCh37
NC_000009.10:g.103231959dup	NCBI36
NG_012387.1:g.10929dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.227dup MANE Select	ENSP00000497767.1:p.Val77CysfsTer?
ENST00000648064.1:c.227dup	ENSP00000497990.1:p.Val77CysfsTer?
ENST00000648758.1:c.227dup	ENSP00000497731.1:p.Val77CysfsTer?
ENST00000648906.1:n.397dup
ENST00000649902.1:c.227dup	ENSP00000497216.1:p.Val77CysfsTer?
ENST00000650613.1:n.303dup
ENST00000374855.8:c.227dup	ENSP00000363988.4:p.Val77CysfsTer?
ENST00000468981.3:n.24dup
ENST00000616752.1:c.227dup	ENSP00000481363.1:p.Val77CysfsTer?
NM_000035.3:c.227dup	NP_000026.2:p.Val77CysfsTer?
NM_000035.4:c.227dup MANE Select	NP_000026.2:p.Val77CysfsTer?