Canonical Allele Identifier: CA114307

Gene: ALDOB

Linked Data

• ClinVar Variation Id: 188861
• ClinVar RCV Id: RCV000169213 ; RCV000723843 ; RCV002517627
• dbSNP Id: rs387906225
• ExAC: 9:104190766 CTTTG / C
• gnomAD v2: 9-104190766-CTTTG-C
• gnomAD v3: 9-101428484-CTTTG-C
• gnomAD v4: 9-101428484-CTTTG-C
• COSMIC: COSM1458976
• MyVariant Identifiers: chr9:g.104190767_104190770del (hg19) ; chr9:g.104190767_104190770delTTTG (hg19) ; chr9:g.101428486_101428489del (hg38) ; chr9:g.101428485_101428488del (hg38)
• PubMed: PMID:2339710 ; PMID:7717389 ; PMID:8292669 ; PMID:8880583 ; PMID:12205126 ; PMID:15880727 ; PMID:16406649 ; PMID:17955389 ; PMID:18541450 ; PMID:20033295 ; PMID:23430936 ; PMID:26677512

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101428491_101428494del , CM000671.2:g.101428491_101428494del	GRCh38
NC_000009.11:g.104190773_104190776del , CM000671.1:g.104190773_104190776del	GRCh37
NC_000009.10:g.103230594_103230597del	NCBI36
NG_012387.1:g.12293_12296del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.360_363del MANE Select	ENSP00000497767.1:p.Asn120LysfsTer?
ENST00000648064.1:c.360_363del	ENSP00000497990.1:p.Asn120LysfsTer?
ENST00000648758.1:c.360_363del	ENSP00000497731.1:p.Asn120LysfsTer?
ENST00000649902.1:c.360_363del	ENSP00000497216.1:p.Asn120LysfsTer?
ENST00000374855.8:c.360_363del	ENSP00000363988.4:p.Asn120LysfsTer?
ENST00000468981.3:n.67+1321_67+1324del
ENST00000616752.1:c.360_363del	ENSP00000481363.1:p.Asn120LysfsTer?
NM_000035.3:c.360_363del	NP_000026.2:p.Asn120LysfsTer?
NM_000035.4:c.360_363del MANE Select	NP_000026.2:p.Asn120LysfsTer?