Canonical Allele Identifier: CA2635961873

Gene: ALOX12B

Linked Data

• ClinVar Variation Id: 2633169
• ClinVar RCV Id: RCV003397856
• gnomAD v4: 17-8086154-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8086156_8086157del , CM000679.2:g.8086156_8086157del	GRCh38
NC_000017.10:g.7989474_7989475del , CM000679.1:g.7989474_7989475del	GRCh37
NC_000017.9:g.7930199_7930200del	NCBI36
NG_007099.1:g.6548_6549del
NG_007099.2:g.6561_6562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.212_213del MANE Select	ENSP00000497784.1:p.Lys71ArgfsTer?
ENST00000319144.4:c.212_213del	ENSP00000315167.4:p.Lys71ArgfsTer?
NM_001139.2:c.212_213del	NP_001130.1:p.Lys71ArgfsTer?
NM_001139.3:c.212_213del MANE Select	NP_001130.1:p.Lys71ArgfsTer?