Canonical Allele Identifier: CA9304711

Gene: IL12RB1

Linked Data

• ClinVar Variation Id: 946078
• ClinVar RCV Id: RCV001216866
• dbSNP Id: rs759702719
• ExAC: 19:18172015 G / GGAAAGGGGACCTGGGGAT
• gnomAD v2: 19-18172015-G-GGAAAGGGGACCTGGGGAT
• gnomAD v3: 19-18061205-G-GGAAAGGGGACCTGGGGAT
• gnomAD v4: 19-18061205-G-GGAAAGGGGACCTGGGGAT
• MyVariant Identifiers: chr19:g.18172015_18172016insGAAAGGGGACCTGGGGAT (hg19) ; chr19:g.18061205_18061206insGAAAGGGGACCTGGGGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18061216_18061217insTGGGGATGAAAGGGGACC , CM000681.2:g.18061216_18061217insTGGGGATGAAAGGGGACC	GRCh38
NC_000019.9:g.18172026_18172027insTGGGGATGAAAGGGGACC , CM000681.1:g.18172026_18172027insTGGGGATGAAAGGGGACC	GRCh37
NC_000019.8:g.18033026_18033027insTGGGGATGAAAGGGGACC	NCBI36
NG_007366.2:g.42744_42745insATCCCCAGGTCCCCTTTC , LRG_72:g.42744_42745insATCCCCAGGTCCCCTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1716-9_1716-8insATCCCCAGGTCCCCTTTC MANE Select	ENSP00000472165.2:n.1716-9_1716-8insATCCCCAGGTCCCCTTTC
ENST00000593993.6:c.1716-9_1716-8insATCCCCAGGTCCCCTTTC	ENSP00000472165.2:n.1716-9_1716-8insATCCCCAGGTCCCCTTTC
ENST00000600835.6:c.1716-9_1716-8insATCCCCAGGTCCCCTTTC	ENSP00000470788.1:n.1716-9_1716-8insATCCCCAGGTCCCCTTTC
NM_001290023.1:c.1716-9_1716-8insATCCCCAGGTCCCCTTTC	NP_001276952.1:n.1716-9_1716-8insATCCCCAGGTCCCCTTTC
NM_001290024.1:c.1836-9_1836-8insATCCCCAGGTCCCCTTTC	NP_001276953.1:n.1836-9_1836-8insATCCCCAGGTCCCCTTTC
NM_005535.2:c.1716-9_1716-8insATCCCCAGGTCCCCTTTC	NP_005526.1:n.1716-9_1716-8insATCCCCAGGTCCCCTTTC
XM_006722741.2:c.1836-9_1836-8insATCCCCAGGTCCCCTTTC	XP_006722804.2:n.1836-9_1836-8insATCCCCAGGTCCCCTTTC
XM_011527966.1:c.1869-9_1869-8insATCCCCAGGTCCCCTTTC	XP_011526268.1:n.1869-9_1869-8insATCCCCAGGTCCCCTTTC
XM_011527967.1:c.1857-9_1857-8insATCCCCAGGTCCCCTTTC	XP_011526269.1:n.1857-9_1857-8insATCCCCAGGTCCCCTTTC
XM_011527968.1:c.1848-9_1848-8insATCCCCAGGTCCCCTTTC	XP_011526270.1:n.1848-9_1848-8insATCCCCAGGTCCCCTTTC
XM_011527969.1:c.1836-9_1836-8insATCCCCAGGTCCCCTTTC	XP_011526271.1:n.1836-9_1836-8insATCCCCAGGTCCCCTTTC
XM_011527970.1:c.1869-9_1869-8insATCCCCAGGTCCCCTTTC	XP_011526272.1:n.1869-9_1869-8insATCCCCAGGTCCCCTTTC
XM_011527971.1:c.1869-9_1869-8insATCCCCAGGTCCCCTTTC	XP_011526273.1:n.1869-9_1869-8insATCCCCAGGTCCCCTTTC
XM_011527972.1:c.1869-9_1869-8insATCCCCAGGTCCCCTTTC	XP_011526274.1:n.1869-9_1869-8insATCCCCAGGTCCCCTTTC
XM_011527973.1:c.1749-9_1749-8insATCCCCAGGTCCCCTTTC	XP_011526275.1:n.1749-9_1749-8insATCCCCAGGTCCCCTTTC
XM_011527974.1:c.1737-9_1737-8insATCCCCAGGTCCCCTTTC	XP_011526276.1:n.1737-9_1737-8insATCCCCAGGTCCCCTTTC
XM_011527975.1:c.1836-9_1836-8insATCCCCAGGTCCCCTTTC	XP_011526277.1:n.1836-9_1836-8insATCCCCAGGTCCCCTTTC
XM_006722741.3:c.1836-9_1836-8insATCCCCAGGTCCCCTTTC	XP_006722804.2:n.1836-9_1836-8insATCCCCAGGTCCCCTTTC
XM_011527966.2:c.1869-9_1869-8insATCCCCAGGTCCCCTTTC	XP_011526268.1:n.1869-9_1869-8insATCCCCAGGTCCCCTTTC
XM_011527967.2:c.1857-9_1857-8insATCCCCAGGTCCCCTTTC	XP_011526269.1:n.1857-9_1857-8insATCCCCAGGTCCCCTTTC
XM_011527968.3:c.1848-9_1848-8insATCCCCAGGTCCCCTTTC	XP_011526270.1:n.1848-9_1848-8insATCCCCAGGTCCCCTTTC
XM_011527969.2:c.1836-9_1836-8insATCCCCAGGTCCCCTTTC	XP_011526271.1:n.1836-9_1836-8insATCCCCAGGTCCCCTTTC
XM_011527970.2:c.1869-9_1869-8insATCCCCAGGTCCCCTTTC	XP_011526272.1:n.1869-9_1869-8insATCCCCAGGTCCCCTTTC
XM_011527971.3:c.1869-9_1869-8insATCCCCAGGTCCCCTTTC	XP_011526273.1:n.1869-9_1869-8insATCCCCAGGTCCCCTTTC
XM_011527972.3:c.1869-9_1869-8insATCCCCAGGTCCCCTTTC	XP_011526274.1:n.1869-9_1869-8insATCCCCAGGTCCCCTTTC
XM_011527973.2:c.1749-9_1749-8insATCCCCAGGTCCCCTTTC	XP_011526275.1:n.1749-9_1749-8insATCCCCAGGTCCCCTTTC
XM_011527974.2:c.1737-9_1737-8insATCCCCAGGTCCCCTTTC	XP_011526276.1:n.1737-9_1737-8insATCCCCAGGTCCCCTTTC
XM_011527975.2:c.1836-9_1836-8insATCCCCAGGTCCCCTTTC	XP_011526277.1:n.1836-9_1836-8insATCCCCAGGTCCCCTTTC
XM_017026762.1:c.1134-9_1134-8insATCCCCAGGTCCCCTTTC	XP_016882251.1:n.1134-9_1134-8insATCCCCAGGTCCCCTTTC
NM_001290023.2:c.1716-9_1716-8insATCCCCAGGTCCCCTTTC	NP_001276952.1:n.1716-9_1716-8insATCCCCAGGTCCCCTTTC
NM_005535.3:c.1716-9_1716-8insATCCCCAGGTCCCCTTTC MANE Select	NP_005526.1:n.1716-9_1716-8insATCCCCAGGTCCCCTTTC