Canonical Allele Identifier: CA10588675
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 265037
ClinVar RCV Id: RCV000256043
dbSNP Id: rs886039307
gnomAD v2: 17-7989443-AG-A
gnomAD v3: 17-8086125-AG-A
gnomAD v4: 17-8086125-AG-A
MyVariant Identifiers: chr17:g.7989444del (hg19) chr17:g.8086126del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086128del , CM000679.2:g.8086128del GRCh38
NC_000017.10:g.7989446del , CM000679.1:g.7989446del GRCh37
NC_000017.9:g.7930171del NCBI36
NG_007099.1:g.6578del
NG_007099.2:g.6591del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.242del MANE Select ENSP00000497784.1:p.Pro81LeufsTer?
ENST00000319144.4:c.242del ENSP00000315167.4:p.Pro81LeufsTer?
NM_001139.2:c.242del NP_001130.1:p.Pro81LeufsTer?
NM_001139.3:c.242del MANE Select NP_001130.1:p.Pro81LeufsTer?
Search 100 bp 5'
Search 100 bp 3'