Canonical Allele Identifier: CA2499218202
Gene: RIPK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3113125_3113128del , CM000668.2:g.3113125_3113128del GRCh38
NC_000006.11:g.3113359_3113362del , CM000668.1:g.3113359_3113362del GRCh37
NC_000006.10:g.3058358_3058361del NCBI36
NG_063914.1:g.54285_54288del

Transcript Alleles

HGVS Amino-acid Change
NM_001354930.2:c.1802_1805del MANE Select NP_001341859.1:p.Cys601SerfsTer23
ENST00000259808.9:c.1802_1805del MANE Select ENSP00000259808.3:p.Cys601SerfsTer23
NM_001317061.1:c.1313_1316del NP_001303990.1:p.Cys438SerfsTer23
NM_001317061.2:c.1313_1316del NP_001303990.1:p.Cys438SerfsTer23
NM_001317061.3:c.1313_1316del NP_001303990.1:p.Cys438SerfsTer23
NM_001354930.1:c.1802_1805del NP_001341859.1:p.Cys601SerfsTer23
NM_001354931.1:c.1664_1667del NP_001341860.1:p.Cys555SerfsTer23
NM_001354931.2:c.1664_1667del NP_001341860.1:p.Cys555SerfsTer23
NM_001354932.1:c.1313_1316del NP_001341861.1:p.Cys438SerfsTer23
NM_001354932.2:c.1313_1316del NP_001341861.1:p.Cys438SerfsTer23
NM_001354933.1:c.1313_1316del NP_001341862.1:p.Cys438SerfsTer23
NM_001354933.2:c.1313_1316del NP_001341862.1:p.Cys438SerfsTer23
NM_001354934.1:c.1313_1316del NP_001341863.1:p.Cys438SerfsTer23
NM_001354934.2:c.1313_1316del NP_001341863.1:p.Cys438SerfsTer23
NM_003804.3:c.1802_1805del NP_003795.2:p.Cys601SerfsTer23
NM_003804.4:c.1802_1805del NP_003795.2:p.Cys601SerfsTer23
NM_003804.5:c.1802_1805del NP_003795.2:p.Cys601SerfsTer23
NM_003804.6:c.1802_1805del NP_003795.2:p.Cys601SerfsTer23
ENST00000259808.8:c.1802_1805del ENSP00000259808.3:p.Cys601SerfsTer23
ENST00000380409.2:c.1802_1805del ENSP00000369773.2:p.Cys601SerfsTer23
ENST00000380409.3:c.1664_1667del ENSP00000369773.3:p.Cys555SerfsTer23
ENST00000676591.1:c.*1346_*1349del ENSP00000504592.1:n.*1346_*1349del
ENST00000676758.1:n.2554_2557del
ENST00000676965.1:c.*1090_*1093del ENSP00000503708.1:n.*1090_*1093del
ENST00000677361.1:c.*1346_*1349del ENSP00000504823.1:n.*1346_*1349del
ENST00000677799.1:c.*1346_*1349del ENSP00000502975.1:n.*1346_*1349del
ENST00000678874.1:c.*3291_*3294del ENSP00000503002.1:n.*3291_*3294del
ENST00000679118.1:c.*1346_*1349del ENSP00000504232.1:n.*1346_*1349del
ENST00000679335.1:n.2941_2944del
ENST00000679677.1:n.1229_1232del
XM_005249457.3:c.1802_1805del XP_005249514.2:p.Cys601SerfsTer23
XM_011514969.1:c.1652_1655del XP_011513271.1:p.Cys551SerfsTer23
XM_017011403.1:c.1313_1316del XP_016866892.1:p.Cys438SerfsTer23
XM_017011404.2:c.935_938del XP_016866893.1:p.Cys312SerfsTer23
XR_001743928.2:n.843-3732_843-3729del