Canonical Allele Identifier: CA306158752

Gene: IL12RB1

Linked Data

• dbSNP Id: rs1055504589
• gnomAD v3: 19-18059954-GGCA-G
• gnomAD v4: 19-18059954-GGCA-G
• MyVariant Identifiers: chr19:g.18170765_18170767del (hg19) ; chr19:g.18059955_18059957del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18059955_18059957del , CM000681.2:g.18059955_18059957del	GRCh38
NC_000019.9:g.18170765_18170767del , CM000681.1:g.18170765_18170767del	GRCh37
NC_000019.8:g.18031765_18031767del	NCBI36
NG_007366.2:g.43993_43995del , LRG_72:g.43993_43995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1920_1922del MANE Select	ENSP00000472165.2:p.Ala641del
ENST00000593993.6:c.1920_1922del	ENSP00000472165.2:p.Ala641del
ENST00000600835.6:c.1920_1922del	ENSP00000470788.1:p.Ala641del
NM_001290023.1:c.1920_1922del	NP_001276952.1:p.Ala641del
NM_001290024.1:c.2040_2042del	NP_001276953.1:p.Ala681del
NM_005535.2:c.1920_1922del	NP_005526.1:p.Ala641del
XM_006722741.2:c.2040_2042del	XP_006722804.2:p.Ala681del
XM_011527966.1:c.2073_2075del	XP_011526268.1:p.Ala692del
XM_011527967.1:c.2061_2063del	XP_011526269.1:p.Ala688del
XM_011527968.1:c.2052_2054del	XP_011526270.1:p.Ala685del
XM_011527969.1:c.2040_2042del	XP_011526271.1:p.Ala681del
XM_011527970.1:c.2073_2075del	XP_011526272.1:p.Ala692del
XM_011527971.1:c.2073_2075del	XP_011526273.1:p.Ala692del
XM_011527972.1:c.2073_2075del	XP_011526274.1:p.Ala692del
XM_011527973.1:c.1953_1955del	XP_011526275.1:p.Ala652del
XM_011527974.1:c.1941_1943del	XP_011526276.1:p.Ala648del
XM_011527975.1:c.2040_2042del	XP_011526277.1:p.Ala681del
XM_006722741.3:c.2040_2042del	XP_006722804.2:p.Ala681del
XM_011527966.2:c.2073_2075del	XP_011526268.1:p.Ala692del
XM_011527967.2:c.2061_2063del	XP_011526269.1:p.Ala688del
XM_011527968.3:c.2052_2054del	XP_011526270.1:p.Ala685del
XM_011527969.2:c.2040_2042del	XP_011526271.1:p.Ala681del
XM_011527970.2:c.2073_2075del	XP_011526272.1:p.Ala692del
XM_011527971.3:c.2073_2075del	XP_011526273.1:p.Ala692del
XM_011527972.3:c.2073_2075del	XP_011526274.1:p.Ala692del
XM_011527973.2:c.1953_1955del	XP_011526275.1:p.Ala652del
XM_011527974.2:c.1941_1943del	XP_011526276.1:p.Ala648del
XM_011527975.2:c.2040_2042del	XP_011526277.1:p.Ala681del
XM_017026762.1:c.1338_1340del	XP_016882251.1:p.Ala447del
NM_001290023.2:c.1920_1922del	NP_001276952.1:p.Ala641del
NM_005535.3:c.1920_1922del MANE Select	NP_005526.1:p.Ala641del