Canonical Allele Identifier: CA891842622
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 581125
ClinVar RCV Id: RCV000704860
dbSNP Id: rs1562112330
gnomAD v4: 5-159320415-GTCC-G
MyVariant Identifiers: chr5:g.158747424_158747426del (hg19) chr5:g.159320416_159320418del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320420_159320422del , CM000667.2:g.159320420_159320422del GRCh38
NC_000005.9:g.158747428_158747430del , CM000667.1:g.158747428_158747430del GRCh37
NC_000005.8:g.158680006_158680008del NCBI36
NG_009618.1:g.15056_15058del , LRG_71:g.15056_15058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-46_-44del ENSP00000512849.1:n.-46_-44del
ENST00000696751.1:c.*80_*82del ENSP00000512850.1:n.*80_*82del
ENST00000231228.3:c.585_587del MANE Select ENSP00000231228.2:p.Glu195del
ENST00000231228.2:c.585_587del ENSP00000231228.2:p.Glu195del
NM_002187.2:c.585_587del , LRG_71t1:c.585_587del NP_002178.2:p.Glu195del
NM_002187.3:c.585_587del MANE Select NP_002178.2:p.Glu195del
Search 100 bp 5'
Search 100 bp 3'