Canonical Allele Identifier: CA2576719412
Gene: IL12RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18059962del , CM000681.2:g.18059962del GRCh38
NC_000019.9:g.18170772del , CM000681.1:g.18170772del GRCh37
NC_000019.8:g.18031772del NCBI36
NG_007366.2:g.43988del , LRG_72:g.43988del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593993.7:c.1915del MANE Select ENSP00000472165.2:p.Glu639ArgfsTer27
ENST00000593993.6:c.1915del ENSP00000472165.2:p.Glu639ArgfsTer27
ENST00000600835.6:c.1915del ENSP00000470788.1:p.Glu639ArgfsTer27
NM_001290023.1:c.1915del NP_001276952.1:p.Glu639ArgfsTer28
NM_001290024.1:c.2035del NP_001276953.1:p.Glu679ArgfsTer27
NM_005535.2:c.1915del NP_005526.1:p.Glu639ArgfsTer27
XM_006722741.2:c.2035del XP_006722804.2:p.Glu679ArgfsTer?
XM_011527966.1:c.2068del XP_011526268.1:p.Glu690ArgfsTer?
XM_011527967.1:c.2056del XP_011526269.1:p.Glu686ArgfsTer?
XM_011527968.1:c.2047del XP_011526270.1:p.Glu683ArgfsTer?
XM_011527969.1:c.2035del XP_011526271.1:p.Glu679ArgfsTer?
XM_011527970.1:c.2068del XP_011526272.1:p.Glu690ArgfsTer?
XM_011527971.1:c.2068del XP_011526273.1:p.Glu690ArgfsTer27
XM_011527972.1:c.2068del XP_011526274.1:p.Glu690ArgfsTer28
XM_011527973.1:c.1948del XP_011526275.1:p.Glu650ArgfsTer?
XM_011527974.1:c.1936del XP_011526276.1:p.Glu646ArgfsTer?
XM_011527975.1:c.2035del XP_011526277.1:p.Glu679ArgfsTer28
XM_006722741.3:c.2035del XP_006722804.2:p.Glu679ArgfsTer?
XM_011527966.2:c.2068del XP_011526268.1:p.Glu690ArgfsTer?
XM_011527967.2:c.2056del XP_011526269.1:p.Glu686ArgfsTer?
XM_011527968.3:c.2047del XP_011526270.1:p.Glu683ArgfsTer?
XM_011527969.2:c.2035del XP_011526271.1:p.Glu679ArgfsTer?
XM_011527970.2:c.2068del XP_011526272.1:p.Glu690ArgfsTer?
XM_011527971.3:c.2068del XP_011526273.1:p.Glu690ArgfsTer27
XM_011527972.3:c.2068del XP_011526274.1:p.Glu690ArgfsTer28
XM_011527973.2:c.1948del XP_011526275.1:p.Glu650ArgfsTer?
XM_011527974.2:c.1936del XP_011526276.1:p.Glu646ArgfsTer?
XM_011527975.2:c.2035del XP_011526277.1:p.Glu679ArgfsTer28
XM_017026762.1:c.1333del XP_016882251.1:p.Glu445ArgfsTer?
NM_001290023.2:c.1915del NP_001276952.1:p.Glu639ArgfsTer28
NM_005535.3:c.1915del MANE Select NP_005526.1:p.Glu639ArgfsTer27