Canonical Allele Identifier: CA2578471105
Gene: IL12B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320460del , CM000667.2:g.159320460del GRCh38
NC_000005.9:g.158747468del , CM000667.1:g.158747468del GRCh37
NC_000005.8:g.158680046del NCBI36
NG_009618.1:g.15014del , LRG_71:g.15014del

Transcript Alleles

HGVS Amino-acid change
ENST00000696750.1:c.-88del ENSP00000512849.1:n.-88del
ENST00000696751.1:c.*38del ENSP00000512850.1:n.*38del
ENST00000231228.3:c.543del MANE Select ENSP00000231228.2:p.Asp183ThrfsTer?
ENST00000231228.2:c.543del ENSP00000231228.2:p.Asp183ThrfsTer?
NM_002187.2:c.543del , LRG_71t1:c.543del NP_002178.2:p.Asp183ThrfsTer?
XR_001742945.1:n.11del
NM_002187.3:c.543del MANE Select NP_002178.2:p.Asp183ThrfsTer?