Canonical Allele Identifier: CA1139661093

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 2739775
• ClinVar RCV Id: RCV003494852
• dbSNP Id: rs1831052831

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101421896_101421897delinsA , CM000671.2:g.101421896_101421897delinsA	GRCh38
NC_000009.11:g.104184178_104184179delinsA , CM000671.1:g.104184178_104184179delinsA	GRCh37
NC_000009.10:g.103223999_103224000delinsA	NCBI36
NG_012387.1:g.18884_18885delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.1007_1008delinsT MANE Select	ENSP00000497767.1:p.Cys336PhefsTer?
ENST00000648064.1:c.1007_1008delinsT	ENSP00000497990.1:p.Cys336PhefsTer?
ENST00000648758.1:c.1007_1008delinsT	ENSP00000497731.1:p.Cys336PhefsTer?
ENST00000374855.8:c.1007_1008delinsT	ENSP00000363988.4:p.Cys336PhefsTer?
ENST00000616752.1:c.*19_*20delinsT	ENSP00000481363.1:n.*19_*20delinsT
NM_000035.3:c.1007_1008delinsT	NP_000026.2:p.Cys336PhefsTer?
NM_000035.4:c.1007_1008delinsT MANE Select	NP_000026.2:p.Cys336PhefsTer?