Canonical Allele Identifier: CA5161539

Gene: ALDOB

Linked Data

• dbSNP Id: rs746135891
• ExAC: 9:104188909 TACC / T
• gnomAD v2: 9-104188909-TACC-T
• gnomAD v3: 9-101426627-TACC-T
• gnomAD v4: 9-101426627-TACC-T
• MyVariant Identifiers: chr9:g.104188910_104188912del (hg19) ; chr9:g.101426628_101426630del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101426629_101426631del , CM000671.2:g.101426629_101426631del	GRCh38
NC_000009.11:g.104188911_104188913del , CM000671.1:g.104188911_104188913del	GRCh37
NC_000009.10:g.103228732_103228734del	NCBI36
NG_012387.1:g.14151_14153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.549_551del MANE Select	ENSP00000497767.1:p.Val184del
ENST00000648064.1:c.549_551del	ENSP00000497990.1:p.Val184del
ENST00000648758.1:c.549_551del	ENSP00000497731.1:p.Val184del
ENST00000649902.1:c.549_551del	ENSP00000497216.1:p.Val184del
ENST00000374855.8:c.549_551del	ENSP00000363988.4:p.Val184del
ENST00000468981.3:n.76_78del
ENST00000616752.1:c.549_551del	ENSP00000481363.1:p.Val184del
NM_000035.3:c.549_551del	NP_000026.2:p.Val184del
NM_000035.4:c.549_551del MANE Select	NP_000026.2:p.Val184del