Canonical Allele Identifier: CA783892720

Gene: IL12RB1

Linked Data

• dbSNP Id: rs1166125531
• MyVariant Identifiers: chr19:g.18170718del (hg19) ; chr19:g.18059908del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18059908del , CM000681.2:g.18059908del	GRCh38
NC_000019.9:g.18170718del , CM000681.1:g.18170718del	GRCh37
NC_000019.8:g.18031718del	NCBI36
NG_007366.2:g.44042del , LRG_72:g.44042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1969del MANE Select	ENSP00000472165.2:p.Arg657GlyfsTer9
ENST00000593993.6:c.1969del	ENSP00000472165.2:p.Arg657GlyfsTer9
ENST00000600835.6:c.1969del	ENSP00000470788.1:p.Arg657GlyfsTer9
NM_001290023.1:c.1969del	NP_001276952.1:p.Arg657AspfsTer10
NM_001290024.1:c.2089del	NP_001276953.1:p.Arg697GlyfsTer9
NM_005535.2:c.1969del	NP_005526.1:p.Arg657GlyfsTer9
XM_006722741.2:c.2089del	XP_006722804.2:p.Arg697GlyfsTer?
XM_011527966.1:c.2122del	XP_011526268.1:p.Arg708AspfsTer28
XM_011527967.1:c.2110del	XP_011526269.1:p.Arg704AspfsTer28
XM_011527968.1:c.2101del	XP_011526270.1:p.Arg701AspfsTer28
XM_011527969.1:c.2089del	XP_011526271.1:p.Arg697AspfsTer28
XM_011527970.1:c.2122del	XP_011526272.1:p.Arg708GlyfsTer?
XM_011527971.1:c.2122del	XP_011526273.1:p.Arg708GlyfsTer9
XM_011527972.1:c.2122del	XP_011526274.1:p.Arg708AspfsTer10
XM_011527973.1:c.2002del	XP_011526275.1:p.Arg668AspfsTer28
XM_011527974.1:c.1990del	XP_011526276.1:p.Arg664AspfsTer28
XM_011527975.1:c.2089del	XP_011526277.1:p.Arg697AspfsTer10
XM_006722741.3:c.2089del	XP_006722804.2:p.Arg697GlyfsTer?
XM_011527966.2:c.2122del	XP_011526268.1:p.Arg708AspfsTer28
XM_011527967.2:c.2110del	XP_011526269.1:p.Arg704AspfsTer28
XM_011527968.3:c.2101del	XP_011526270.1:p.Arg701AspfsTer28
XM_011527969.2:c.2089del	XP_011526271.1:p.Arg697AspfsTer28
XM_011527970.2:c.2122del	XP_011526272.1:p.Arg708GlyfsTer?
XM_011527971.3:c.2122del	XP_011526273.1:p.Arg708GlyfsTer9
XM_011527972.3:c.2122del	XP_011526274.1:p.Arg708AspfsTer10
XM_011527973.2:c.2002del	XP_011526275.1:p.Arg668AspfsTer28
XM_011527974.2:c.1990del	XP_011526276.1:p.Arg664AspfsTer28
XM_011527975.2:c.2089del	XP_011526277.1:p.Arg697AspfsTer10
XM_017026762.1:c.1387del	XP_016882251.1:p.Arg463AspfsTer28
NM_001290023.2:c.1969del	NP_001276952.1:p.Arg657AspfsTer10
NM_005535.3:c.1969del MANE Select	NP_005526.1:p.Arg657GlyfsTer9