Canonical Allele Identifier: CA16041284
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 371208
ClinVar RCV Id: RCV000410076
dbSNP Id: rs1057517091
MyVariant Identifiers: chr9:g.104188915del (hg19) chr9:g.101426633del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101426633del , CM000671.2:g.101426633del GRCh38
NC_000009.11:g.104188915del , CM000671.1:g.104188915del GRCh37
NC_000009.10:g.103228736del NCBI36
NG_012387.1:g.14148del

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.546del MANE Select ENSP00000497767.1:p.Leu183TrpfsTer9
ENST00000648064.1:c.546del ENSP00000497990.1:p.Leu183TrpfsTer9
ENST00000648758.1:c.546del ENSP00000497731.1:p.Leu183TrpfsTer9
ENST00000649902.1:c.546del ENSP00000497216.1:p.Leu183TrpfsTer9
ENST00000374855.8:c.546del ENSP00000363988.4:p.Leu183TrpfsTer9
ENST00000468981.3:n.73del
ENST00000616752.1:c.546del ENSP00000481363.1:p.Leu183TrpfsTer9
NM_000035.3:c.546del NP_000026.2:p.Leu183TrpfsTer9
NM_000035.4:c.546del MANE Select NP_000026.2:p.Leu183TrpfsTer9
Search 100 bp 5'
Search 100 bp 3'