Canonical Allele Identifier: CA806391075

Gene: IL12B

Linked Data

• dbSNP Id: rs1395224535
• gnomAD v3: 5-159322272-AAC-A
• gnomAD v4: 5-159322272-AAC-A
• MyVariant Identifiers: chr5:g.158749281_158749282del (hg19) ; chr5:g.159322273_159322274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159322275_159322276del , CM000667.2:g.159322275_159322276del	GRCh38
NC_000005.9:g.158749283_158749284del , CM000667.1:g.158749283_158749284del	GRCh37
NC_000005.8:g.158681861_158681862del	NCBI36
NG_009618.1:g.13200_13201del , LRG_71:g.13200_13201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-148-1754_-148-1753del	ENSP00000512849.1:n.-148-1754_-148-1753del
ENST00000696751.1:c.364+780_364+781del	ENSP00000512850.1:n.364+780_364+781del
ENST00000231228.3:c.482+120_482+121del MANE Select	ENSP00000231228.2:n.482+120_482+121del
ENST00000231228.2:c.482+120_482+121del	ENSP00000231228.2:n.482+120_482+121del
NM_002187.2:c.482+120_482+121del , LRG_71t1:c.482+120_482+121del	NP_002178.2:n.482+120_482+121del
XR_001742945.1:n.147+1679_147+1680del
NM_002187.3:c.482+120_482+121del MANE Select	NP_002178.2:n.482+120_482+121del