Canonical Allele Identifier: CA2499219512

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 1065868
• ClinVar RCV Id: RCV001376722
• dbSNP Id: rs2118341777

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101424850_101424891del , CM000671.2:g.101424850_101424891del	GRCh38
NC_000009.11:g.104187132_104187173del , CM000671.1:g.104187132_104187173del	GRCh37
NC_000009.10:g.103226953_103226994del	NCBI36
NG_012387.1:g.15893_15934del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.954_995del MANE Select	ENSP00000497767.1:p.Ala319_Ala332del
ENST00000648064.1:c.954_995del	ENSP00000497990.1:p.Ala319_Ala332del
ENST00000648758.1:c.954_995del	ENSP00000497731.1:p.Ala319_Ala332del
ENST00000649902.1:c.954_995del	ENSP00000497216.1:p.Ala319_Ala332del
ENST00000374855.8:c.954_995del	ENSP00000363988.4:p.Ala319_Ala332del
ENST00000616752.1:c.917_*7del	ENSP00000481363.1:n.[c.917_*7del;Leu306Pr...
NM_000035.3:c.954_995del	NP_000026.2:p.Ala319_Ala332del
NM_000035.4:c.954_995del MANE Select	NP_000026.2:p.Ala319_Ala332del