Canonical Allele Identifier: CA2573140138
Gene: RIPK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3083153_3083157del , CM000668.2:g.3083153_3083157del GRCh38
NC_000006.11:g.3083387_3083391del , CM000668.1:g.3083387_3083391del GRCh37
NC_000006.10:g.3028386_3028390del NCBI36
NG_063914.1:g.24313_24317del

Transcript Alleles

HGVS Amino-acid Change
NM_001354930.2:c.528_532del MANE Select NP_001341859.1:p.Arg177SerfsTer6
ENST00000259808.9:c.528_532del MANE Select ENSP00000259808.3:p.Arg177SerfsTer6
NM_001317061.1:c.39_43del NP_001303990.1:p.Arg14SerfsTer6
NM_001317061.2:c.39_43del NP_001303990.1:p.Arg14SerfsTer6
NM_001317061.3:c.39_43del NP_001303990.1:p.Arg14SerfsTer6
NM_001354930.1:c.528_532del NP_001341859.1:p.Arg177SerfsTer6
NM_001354931.1:c.390_394del NP_001341860.1:p.Arg131SerfsTer6
NM_001354931.2:c.390_394del NP_001341860.1:p.Arg131SerfsTer6
NM_001354932.1:c.39_43del NP_001341861.1:p.Arg14SerfsTer6
NM_001354932.2:c.39_43del NP_001341861.1:p.Arg14SerfsTer6
NM_001354933.1:c.39_43del NP_001341862.1:p.Arg14SerfsTer6
NM_001354933.2:c.39_43del NP_001341862.1:p.Arg14SerfsTer6
NM_001354934.1:c.39_43del NP_001341863.1:p.Arg14SerfsTer6
NM_001354934.2:c.39_43del NP_001341863.1:p.Arg14SerfsTer6
NM_003804.3:c.528_532del NP_003795.2:p.Arg177SerfsTer6
NM_003804.4:c.528_532del NP_003795.2:p.Arg177SerfsTer6
NM_003804.5:c.528_532del NP_003795.2:p.Arg177SerfsTer6
NM_003804.6:c.528_532del NP_003795.2:p.Arg177SerfsTer6
ENST00000259808.8:c.528_532del ENSP00000259808.3:p.Arg177SerfsTer6
ENST00000380409.2:c.528_532del ENSP00000369773.2:p.Arg177SerfsTer6
ENST00000380409.3:c.390_394del ENSP00000369773.3:p.Arg131SerfsTer6
ENST00000479389.1:n.433_437del
ENST00000676591.1:c.*72_*76del ENSP00000504592.1:n.*72_*76del
ENST00000676618.1:c.*72_*76del ENSP00000503154.1:n.*72_*76del
ENST00000676758.1:n.1280_1284del
ENST00000676965.1:c.459+2037_459+2041del ENSP00000503708.1:n.459+2037_459+2041del
ENST00000676995.1:n.681_685del
ENST00000677261.1:n.266_270del
ENST00000677361.1:c.*72_*76del ENSP00000504823.1:n.*72_*76del
ENST00000677799.1:c.*72_*76del ENSP00000502975.1:n.*72_*76del
ENST00000678084.1:n.750_754del
ENST00000678809.1:c.*3+493_*3+497del ENSP00000503978.1:n.*3+493_*3+497del
ENST00000678874.1:c.*72_*76del ENSP00000503002.1:n.*72_*76del
ENST00000679118.1:c.*72_*76del ENSP00000504232.1:n.*72_*76del
XM_005249457.3:c.528_532del XP_005249514.2:p.Arg177SerfsTer6
XM_006715237.2:c.528_532del XP_006715300.2:p.Arg177SerfsTer6
XM_006715237.3:c.528_532del XP_006715300.2:p.Arg177SerfsTer6
XM_011514969.1:c.528_532del XP_011513271.1:p.Arg177SerfsTer6
XM_017011403.1:c.39_43del XP_016866892.1:p.Arg14SerfsTer6
XM_017011405.1:c.528_532del XP_016866894.1:p.Arg177SerfsTer6