Canonical Allele Identifier: CA590045539

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 1065869
• ClinVar RCV Id: RCV001376723
• dbSNP Id: rs1376128325
• gnomAD v2: 9-104192043-T-TCCCACCACGATC
• gnomAD v3: 9-101429761-T-TCCCACCACGATC
• gnomAD v4: 9-101429761-T-TCCCACCACGATC
• MyVariant Identifiers: chr9:g.104192043_104192044insCCCACCACGATC (hg19) ; chr9:g.101429761_101429762insCCCACCACGATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429765_101429776dup , CM000671.2:g.101429765_101429776dup	GRCh38
NC_000009.11:g.104192047_104192058dup , CM000671.1:g.104192047_104192058dup	GRCh37
NC_000009.10:g.103231868_103231879dup	NCBI36
NG_012387.1:g.11008_11019dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.306_317dup MANE Select	ENSP00000497767.1:p.Gly106_Ile107insIleVa...
ENST00000648064.1:c.306_317dup	ENSP00000497990.1:p.Gly106_Ile107insIleVa...
ENST00000648758.1:c.306_317dup	ENSP00000497731.1:p.Gly106_Ile107insIleVa...
ENST00000648906.1:n.476_487dup
ENST00000649902.1:c.306_317dup	ENSP00000497216.1:p.Gly106_Ile107insIleVa...
ENST00000650613.1:n.382_393dup
ENST00000374855.8:c.306_317dup	ENSP00000363988.4:p.Gly106_Ile107insIleVa...
ENST00000468981.3:n.67+36_67+47dup
ENST00000616752.1:c.306_317dup	ENSP00000481363.1:p.Gly106_Ile107insIleVa...
NM_000035.3:c.306_317dup	NP_000026.2:p.Gly106_Ile107insIleValValGl...
NM_000035.4:c.306_317dup MANE Select	NP_000026.2:p.Gly106_Ile107insIleValValGl...