Canonical Allele Identifier: CA2676265427
Gene: IL12B HGNC NCBI

Linked Data

gnomAD v4: 5-159320474-CAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320479_159320480del , CM000667.2:g.159320479_159320480del GRCh38
NC_000005.9:g.158747487_158747488del , CM000667.1:g.158747487_158747488del GRCh37
NC_000005.8:g.158680065_158680066del NCBI36
NG_009618.1:g.14998_14999del , LRG_71:g.14998_14999del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-104_-103del ENSP00000512849.1:n.-104_-103del
ENST00000696751.1:c.*22_*23del ENSP00000512850.1:n.*22_*23del
ENST00000231228.3:c.527_528del MANE Select ENSP00000231228.2:p.Ser176CysfsTer12
ENST00000231228.2:c.527_528del ENSP00000231228.2:p.Ser176CysfsTer12
NM_002187.2:c.527_528del , LRG_71t1:c.527_528del NP_002178.2:p.Ser176CysfsTer12
XR_001742945.1:n.30_31del
NM_002187.3:c.527_528del MANE Select NP_002178.2:p.Ser176CysfsTer12
Search 100 bp 5'
Search 100 bp 3'