Canonical Allele Identifier: CA2691006398

Gene: ALDOB

Linked Data

• gnomAD v4: 9-101429909-C-CGGCGGTTCTCTTCAGTGTTTTCCACCTTGATCCTCTGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429918_101429956dup , CM000671.2:g.101429918_101429956dup	GRCh38
NC_000009.11:g.104192200_104192238dup , CM000671.1:g.104192200_104192238dup	GRCh37
NC_000009.10:g.103232021_103232059dup	NCBI36
NG_012387.1:g.10833_10871dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.131_169dup MANE Select	ENSP00000497767.1:p.Arg56_Arg57insLeuGlnArgIleLysValGluAsnThr...
ENST00000648064.1:c.131_169dup	ENSP00000497990.1:p.Arg56_Arg57insLeuGlnArgIleLysValGluAsnThr...
ENST00000648423.1:c.131_169dup	ENSP00000497985.1:p.Arg56_Arg57insLeuGlnArgIleLysValGluAsnThr...
ENST00000648758.1:c.131_169dup	ENSP00000497731.1:p.Arg56_Arg57insLeuGlnArgIleLysValGluAsnThr...
ENST00000648906.1:n.301_339dup
ENST00000649902.1:c.131_169dup	ENSP00000497216.1:p.Arg56_Arg57insLeuGlnArgIleLysValGluAsnThr...
ENST00000650613.1:n.207_245dup
ENST00000374855.8:c.131_169dup	ENSP00000363988.4:p.Arg56_Arg57insLeuGlnArgIleLysValGluAsnThr...
ENST00000616752.1:c.131_169dup	ENSP00000481363.1:p.Arg56_Arg57insLeuGlnArgIleLysValGluAsnThr...
NM_000035.3:c.131_169dup	NP_000026.2:p.Arg56_Arg57insLeuGlnArgIleLysValGluAsnThrGluGlu...
NM_000035.4:c.131_169dup MANE Select	NP_000026.2:p.Arg56_Arg57insLeuGlnArgIleLysValGluAsnThrGluGlu...