Canonical Allele Identifier: CA645602279

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18059968-GCT-G
• COSMIC: COSM3737141 ; COSM3737142

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18059971_18059972del , CM000681.2:g.18059971_18059972del	GRCh38
NC_000019.9:g.18170781_18170782del , CM000681.1:g.18170781_18170782del	GRCh37
NC_000019.8:g.18031781_18031782del	NCBI36
NG_007366.2:g.43980_43981del , LRG_72:g.43980_43981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1907_1908del MANE Select	ENSP00000472165.2:p.Glu636AlafsTer3
ENST00000593993.6:c.1907_1908del	ENSP00000472165.2:p.Glu636AlafsTer3
ENST00000600835.6:c.1907_1908del	ENSP00000470788.1:p.Glu636AlafsTer3
NM_001290023.1:c.1907_1908del	NP_001276952.1:p.Glu636AlafsTer3
NM_001290024.1:c.2027_2028del	NP_001276953.1:p.Glu676AlafsTer3
NM_005535.2:c.1907_1908del	NP_005526.1:p.Glu636AlafsTer3
XM_006722741.2:c.2027_2028del	XP_006722804.2:p.Glu676AlafsTer3
XM_011527966.1:c.2060_2061del	XP_011526268.1:p.Glu687AlafsTer3
XM_011527967.1:c.2048_2049del	XP_011526269.1:p.Glu683AlafsTer3
XM_011527968.1:c.2039_2040del	XP_011526270.1:p.Glu680AlafsTer3
XM_011527969.1:c.2027_2028del	XP_011526271.1:p.Glu676AlafsTer3
XM_011527970.1:c.2060_2061del	XP_011526272.1:p.Glu687AlafsTer3
XM_011527971.1:c.2060_2061del	XP_011526273.1:p.Glu687AlafsTer3
XM_011527972.1:c.2060_2061del	XP_011526274.1:p.Glu687AlafsTer3
XM_011527973.1:c.1940_1941del	XP_011526275.1:p.Glu647AlafsTer3
XM_011527974.1:c.1928_1929del	XP_011526276.1:p.Glu643AlafsTer3
XM_011527975.1:c.2027_2028del	XP_011526277.1:p.Glu676AlafsTer3
XM_006722741.3:c.2027_2028del	XP_006722804.2:p.Glu676AlafsTer3
XM_011527966.2:c.2060_2061del	XP_011526268.1:p.Glu687AlafsTer3
XM_011527967.2:c.2048_2049del	XP_011526269.1:p.Glu683AlafsTer3
XM_011527968.3:c.2039_2040del	XP_011526270.1:p.Glu680AlafsTer3
XM_011527969.2:c.2027_2028del	XP_011526271.1:p.Glu676AlafsTer3
XM_011527970.2:c.2060_2061del	XP_011526272.1:p.Glu687AlafsTer3
XM_011527971.3:c.2060_2061del	XP_011526273.1:p.Glu687AlafsTer3
XM_011527972.3:c.2060_2061del	XP_011526274.1:p.Glu687AlafsTer3
XM_011527973.2:c.1940_1941del	XP_011526275.1:p.Glu647AlafsTer3
XM_011527974.2:c.1928_1929del	XP_011526276.1:p.Glu643AlafsTer3
XM_011527975.2:c.2027_2028del	XP_011526277.1:p.Glu676AlafsTer3
XM_017026762.1:c.1325_1326del	XP_016882251.1:p.Glu442AlafsTer3
NM_001290023.2:c.1907_1908del	NP_001276952.1:p.Glu636AlafsTer3
NM_005535.3:c.1907_1908del MANE Select	NP_005526.1:p.Glu636AlafsTer3