Canonical Allele Identifier: CA129832570

Gene: IL12B

Linked Data

• dbSNP Id: rs998915540
• gnomAD v3: 5-159328993-AGTCTT-A
• gnomAD v4: 5-159328993-AGTCTT-A
• MyVariant Identifiers: chr5:g.158756002_158756006del (hg19) ; chr5:g.159328994_159328998del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159328995_159328999del , CM000667.2:g.159328995_159328999del	GRCh38
NC_000005.9:g.158756003_158756007del , CM000667.1:g.158756003_158756007del	GRCh37
NC_000005.8:g.158688581_158688585del	NCBI36
NG_009618.1:g.6476_6480del , LRG_71:g.6476_6480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-149+1434_-149+1438del	ENSP00000512849.1:n.-149+1434_-149+1438del
ENST00000696751.1:c.-1+1434_-1+1438del	ENSP00000512850.1:n.-1+1434_-1+1438del
ENST00000696752.1:n.432+1434_432+1438del
ENST00000231228.3:c.-1+1434_-1+1438del MANE Select	ENSP00000231228.2:n.-1+1434_-1+1438del
ENST00000231228.2:c.-1+1434_-1+1438del	ENSP00000231228.2:n.-1+1434_-1+1438del
NM_002187.2:c.-1+1434_-1+1438del , LRG_71t1:c.-1+1434_-1+1438del	NP_002178.2:n.-1+1434_-1+1438del
NM_002187.3:c.-1+1434_-1+1438del MANE Select	NP_002178.2:n.-1+1434_-1+1438del