Canonical Allele Identifier: CA3261181401
Community Standard Title: NM_058216.3(RAD51C):c.548_549delinsCC (p.Ile183Thr)
Gene: RAD51C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58696836_58696837delinsCC , CM000679.2:g.58696836_58696837delinsCC GRCh38
NC_000017.10:g.56774197_56774198delinsCC , CM000679.1:g.56774197_56774198delinsCC GRCh37
NC_000017.9:g.54129196_54129197delinsCC NCBI36
NG_023199.1:g.9235_9236delinsCC , LRG_314:g.9235_9236delinsCC
NG_047169.1:g.243_244delinsGG

Transcript Alleles

HGVS Amino-acid Change
NM_058216.3:c.548_549delinsCC MANE Select NP_478123.1:p.Ile183Thr
ENST00000337432.9:c.548_549delinsCC MANE Select ENSP00000336701.4:p.Ile183Thr
NM_058216.2:c.548_549delinsCC NP_478123.1:p.Ile183Thr
NR_103872.1:n.475+1647_475+1648delinsCC
NR_103872.2:n.446+1647_446+1648delinsCC
ENST00000337432.8:c.548_549delinsCC ENSP00000336701.4:p.Ile183Thr
ENST00000413590.5:c.186_187delinsCC
ENST00000425173.5:c.344_345delinsCC ENSP00000407282.1:p.Ile115Thr
ENST00000461271.5:c.197_198delinsCC ENSP00000464056.1:p.Ile66Thr
ENST00000461271.6:c.197_198delinsCC ENSP00000464056.2:p.Ile66Thr
ENST00000475762.5:c.*1251_*1252delinsCC ENSP00000432421.1:n.*1251_*1252delinsCC
ENST00000482007.5:c.404+1647_404+1648delinsCC ENSP00000433332.1:n.404+1647_404+1648delinsCC
ENST00000487525.5:c.404+1647_404+1648delinsCC ENSP00000431637.1:n.404+1647_404+1648delinsCC
ENST00000487921.5:n.460_461delinsCC
ENST00000583539.5:c.548_549delinsCC ENSP00000463121.1:p.Ile183Thr
ENST00000584617.5:c.270_271delinsCC
ENST00000622327.4:c.284_285delinsCC ENSP00000482326.1:p.Ile95Thr
ENST00000697675.1:n.3145_3146delinsCC
ENST00000697676.1:n.608_609delinsCC
ENST00000697677.1:n.1629_1630delinsCC
ENST00000697678.1:n.450_451delinsCC
ENST00000697679.1:n.1622_1623delinsCC
ENST00000697680.1:c.*1412_*1413delinsCC ENSP00000513392.1:n.*1412_*1413delinsCC
ENST00000697681.1:c.*1439_*1440delinsCC ENSP00000513393.1:n.*1439_*1440delinsCC
ENST00000697683.1:c.*1412_*1413delinsCC ENSP00000513395.1:n.*1412_*1413delinsCC
ENST00000697684.1:n.608_609delinsCC
ENST00000697685.1:c.*1268+1647_*1268+1648delinsCC ENSP00000513396.1:n.*1268+1647_*1268+1648delinsCC
ENST00000697686.1:c.197_198delinsCC ENSP00000513397.1:p.Ile66Thr
ENST00000697687.1:n.450+1647_450+1648delinsCC
ENST00000697688.1:n.594_595delinsCC
ENST00000697689.1:c.*1107+1647_*1107+1648delinsCC ENSP00000513398.1:n.*1107+1647_*1107+1648delinsCC
ENST00000697690.1:c.548_549delinsCC ENSP00000513399.1:p.Ile183Thr
ENST00000697691.1:c.*520_*521delinsCC ENSP00000513400.1:n.*520_*521delinsCC
ENST00000697692.1:c.*560_*561delinsCC ENSP00000513401.1:n.*560_*561delinsCC
ENST00000697694.1:c.197_198delinsCC ENSP00000513402.1:p.Ile66Thr
ENST00000697695.1:n.1155_1156delinsCC
XM_006722001.2:c.548_549delinsCC XP_006722064.1:p.Ile183Thr
XM_006722001.4:c.548_549delinsCC XP_006722064.1:p.Ile183Thr
XM_006722002.2:c.548_549delinsCC XP_006722065.1:p.Ile183Thr
XM_006722002.4:c.548_549delinsCC XP_006722065.1:p.Ile183Thr
XM_006722004.2:c.197_198delinsCC XP_006722067.1:p.Ile66Thr
XM_006722004.3:c.197_198delinsCC XP_006722067.1:p.Ile66Thr
XM_006722005.2:c.197_198delinsCC XP_006722068.1:p.Ile66Thr
XM_006722005.3:c.197_198delinsCC XP_006722068.1:p.Ile66Thr
XM_011525092.1:c.197_198delinsCC XP_011523394.1:p.Ile66Thr
XM_011525092.2:c.197_198delinsCC XP_011523394.1:p.Ile66Thr
XM_011525093.1:c.197_198delinsCC XP_011523395.1:p.Ile66Thr
XM_011525093.2:c.197_198delinsCC XP_011523395.1:p.Ile66Thr
XM_011525094.1:c.197_198delinsCC XP_011523396.1:p.Ile66Thr
XM_011525094.2:c.197_198delinsCC XP_011523396.1:p.Ile66Thr
XM_017024914.1:c.197_198delinsCC XP_016880403.1:p.Ile66Thr
XM_017024915.1:c.197_198delinsCC XP_016880404.1:p.Ile66Thr
XM_017024916.1:c.197_198delinsCC XP_016880405.1:p.Ile66Thr
XM_017024917.1:c.197_198delinsCC XP_016880406.1:p.Ile66Thr
XM_017024918.2:c.197_198delinsCC XP_016880407.1:p.Ile66Thr
XM_017024919.1:c.197_198delinsCC XP_016880408.1:p.Ile66Thr
XR_934513.1:n.621_622delinsCC
XR_934513.3:n.1052_1053delinsCC
XR_934514.1:n.621_622delinsCC
XR_934514.3:n.1052_1053delinsCC