Canonical Allele Identifier: CA2583508564

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18059905-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18059907del , CM000681.2:g.18059907del	GRCh38
NC_000019.9:g.18170717del , CM000681.1:g.18170717del	GRCh37
NC_000019.8:g.18031717del	NCBI36
NG_007366.2:g.44044del , LRG_72:g.44044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1971del MANE Select	ENSP00000472165.2:p.Arg657SerfsTer9
ENST00000593993.6:c.1971del	ENSP00000472165.2:p.Arg657SerfsTer9
ENST00000600835.6:c.1971del	ENSP00000470788.1:p.Arg657SerfsTer9
NM_001290023.1:c.1970+1del
NM_001290024.1:c.2091del	NP_001276953.1:p.Arg697SerfsTer9
NM_005535.2:c.1971del	NP_005526.1:p.Arg657SerfsTer9
XM_006722741.2:c.2091del	XP_006722804.2:p.Arg697SerfsTer?
XM_011527966.1:c.2123+1del
XM_011527967.1:c.2111+1del
XM_011527968.1:c.2102+1del
XM_011527969.1:c.2090+1del
XM_011527970.1:c.2124del	XP_011526272.1:p.Arg708SerfsTer?
XM_011527971.1:c.2124del	XP_011526273.1:p.Arg708SerfsTer9
XM_011527972.1:c.2123+1del
XM_011527973.1:c.2003+1del
XM_011527974.1:c.1991+1del
XM_011527975.1:c.2090+1del
XM_006722741.3:c.2091del	XP_006722804.2:p.Arg697SerfsTer?
XM_011527966.2:c.2123+1del
XM_011527967.2:c.2111+1del
XM_011527968.3:c.2102+1del
XM_011527969.2:c.2090+1del
XM_011527970.2:c.2124del	XP_011526272.1:p.Arg708SerfsTer?
XM_011527971.3:c.2124del	XP_011526273.1:p.Arg708SerfsTer9
XM_011527972.3:c.2123+1del
XM_011527973.2:c.2003+1del
XM_011527974.2:c.1991+1del
XM_011527975.2:c.2090+1del
XM_017026762.1:c.1388+1del
NM_001290023.2:c.1970+1del
NM_005535.3:c.1971del MANE Select	NP_005526.1:p.Arg657SerfsTer9