Canonical Allele Identifier: CA129828570
Gene: IL12B HGNC NCBI

Linked Data

dbSNP Id: rs11317523

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323071del , CM000667.2:g.159323071del GRCh38
NC_000005.9:g.158750079del , CM000667.1:g.158750079del GRCh37
NC_000005.8:g.158682657del NCBI36
NG_009618.1:g.12406del , LRG_71:g.12406del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2548del ENSP00000512849.1:n.-148-2548del
ENST00000696751.1:c.350del ENSP00000512850.1:p.Leu117Ter
ENST00000231228.3:c.350del MANE Select ENSP00000231228.2:p.Leu117Ter
ENST00000231228.2:c.350del ENSP00000231228.2:p.Leu117Ter
NM_002187.2:c.350del , LRG_71t1:c.350del NP_002178.2:p.Leu117Ter
XR_001742945.1:n.148-2463del
NM_002187.3:c.350del MANE Select NP_002178.2:p.Leu117Ter