Canonical Allele Identifier: CA2580079282

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 1954703
• ClinVar RCV Id: RCV002690142

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101427483del , CM000671.2:g.101427483del	GRCh38
NC_000009.11:g.104189765del , CM000671.1:g.104189765del	GRCh37
NC_000009.10:g.103229586del	NCBI36
NG_012387.1:g.13298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.539del MANE Select	ENSP00000497767.1:p.Gln180ArgfsTer12
ENST00000648064.1:c.539del	ENSP00000497990.1:p.Gln180ArgfsTer12
ENST00000648758.1:c.539del	ENSP00000497731.1:p.Gln180ArgfsTer12
ENST00000649902.1:c.539del	ENSP00000497216.1:p.Gln180ArgfsTer12
ENST00000374855.8:c.539del	ENSP00000363988.4:p.Gln180ArgfsTer12
ENST00000468981.3:n.68-845del
ENST00000616752.1:c.539del	ENSP00000481363.1:p.Gln180ArgfsTer12
NM_000035.3:c.539del	NP_000026.2:p.Gln180ArgfsTer12
NM_000035.4:c.539del MANE Select	NP_000026.2:p.Gln180ArgfsTer12