Canonical Allele Identifier: CA1139665190
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 995495
ClinVar RCV Id: RCV001289529
dbSNP Id: rs1978297341
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086149_8086174del , CM000679.2:g.8086149_8086174del GRCh38
NC_000017.10:g.7989467_7989492del , CM000679.1:g.7989467_7989492del GRCh37
NC_000017.9:g.7930192_7930217del NCBI36
NG_007099.1:g.6531_6556del
NG_007099.2:g.6544_6569del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.195_220del MANE Select ENSP00000497784.1:p.Ile66ArgfsTer?
ENST00000319144.4:c.195_220del ENSP00000315167.4:p.Ile66ArgfsTer?
NM_001139.2:c.195_220del NP_001130.1:p.Ile66ArgfsTer?
NM_001139.3:c.195_220del MANE Select NP_001130.1:p.Ile66ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'