Canonical Allele Identifier: CA1595017392
Gene: IL12B HGNC NCBI

Linked Data

dbSNP Id: rs1754071533
gnomAD v3: 5-159320645-ATTTCTACCCAGAGGGT-A
gnomAD v4: 5-159320645-ATTTCTACCCAGAGGGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320646_159320661del , CM000667.2:g.159320646_159320661del GRCh38
NC_000005.9:g.158747654_158747669del , CM000667.1:g.158747654_158747669del GRCh37
NC_000005.8:g.158680232_158680247del NCBI36
NG_009618.1:g.14813_14828del , LRG_71:g.14813_14828del

Transcript Alleles

HGVS Amino-acid change
ENST00000696750.1:c.-148-141_-148-126del ENSP00000512849.1:n.-148-141_-148-126del
ENST00000696751.1:c.365-141_365-126del ENSP00000512850.1:n.365-141_365-126del
ENST00000231228.3:c.483-141_483-126del MANE Select ENSP00000231228.2:n.483-141_483-126del
ENST00000231228.2:c.483-141_483-126del ENSP00000231228.2:n.483-141_483-126del
NM_002187.2:c.483-141_483-126del , LRG_71t1:c.483-141_483-126del NP_002178.2:n.483-141_483-126del
XR_001742945.1:n.147+50_147+65del
NM_002187.3:c.483-141_483-126del MANE Select NP_002178.2:n.483-141_483-126del
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