Canonical Allele Identifier: CA129828497

Gene: IL12B

Linked Data

• dbSNP Id: rs949753757
• gnomAD v2: 5-158749989-TTTG-T
• gnomAD v3: 5-159322981-TTTG-T
• gnomAD v4: 5-159322981-TTTG-T
• MyVariant Identifiers: chr5:g.158749990_158749992del (hg19) ; chr5:g.159322982_159322984del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159322996_159322998del , CM000667.2:g.159322996_159322998del	GRCh38
NC_000005.9:g.158750004_158750006del , CM000667.1:g.158750004_158750006del	GRCh37
NC_000005.8:g.158682582_158682584del	NCBI36
NG_009618.1:g.12490_12492del , LRG_71:g.12490_12492del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696750.1:c.-148-2464_-148-2462del	ENSP00000512849.1:n.-148-2464_-148-2462del
ENST00000696751.1:c.364+70_364+72del	ENSP00000512850.1:n.364+70_364+72del
ENST00000231228.3:c.364+70_364+72del MANE Select	ENSP00000231228.2:n.364+70_364+72del
ENST00000231228.2:c.364+70_364+72del	ENSP00000231228.2:n.364+70_364+72del
NM_002187.2:c.364+70_364+72del , LRG_71t1:c.364+70_364+72del	NP_002178.2:n.364+70_364+72del
XR_001742945.1:n.147+2400_147+2402del
NM_002187.3:c.364+70_364+72del MANE Select	NP_002178.2:n.364+70_364+72del