Canonical Allele Identifier: CA3261180147
Community Standard Title: NM_058216.3(RAD51C):c.385_387delinsATC (p.Val129Ile)
Gene: RAD51C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58695170_58695172delinsATC , CM000679.2:g.58695170_58695172delinsATC GRCh38
NC_000017.10:g.56772531_56772533delinsATC , CM000679.1:g.56772531_56772533delinsATC GRCh37
NC_000017.9:g.54127530_54127532delinsATC NCBI36
NG_023199.1:g.7569_7571delinsATC , LRG_314:g.7569_7571delinsATC
NG_047169.1:g.1908_1910delinsGAT

Transcript Alleles

HGVS Amino-acid Change
NM_058216.3:c.385_387delinsATC MANE Select NP_478123.1:p.Val129Ile
ENST00000337432.9:c.385_387delinsATC MANE Select ENSP00000336701.4:p.Val129Ile
NM_002876.3:c.385_387delinsATC NP_002867.1:p.Val129Ile
NM_002876.4:c.385_387delinsATC NP_002867.1:p.Val129Ile
NM_058216.2:c.385_387delinsATC NP_478123.1:p.Val129Ile
NR_103872.1:n.456_458delinsATC
NR_103872.2:n.427_429delinsATC
NR_103873.1:n.353_355delinsATC
ENST00000337432.8:c.385_387delinsATC ENSP00000336701.4:p.Val129Ile
ENST00000413590.5:c.23_25delinsATC
ENST00000421782.3:c.385_387delinsATC ENSP00000391450.2:p.Val129Ile
ENST00000425173.5:c.181_183delinsATC ENSP00000407282.1:p.Val61Ile
ENST00000461271.5:c.34_36delinsATC ENSP00000464056.1:p.Val12Ile
ENST00000461271.6:c.34_36delinsATC ENSP00000464056.2:p.Val12Ile
ENST00000475762.5:c.*1088_*1090delinsATC ENSP00000432421.1:n.*1088_*1090delinsATC
ENST00000482007.5:c.385_387delinsATC ENSP00000433332.1:p.Val129Ile
ENST00000486827.1:c.*1249_*1251delinsATC ENSP00000436761.1:n.*1249_*1251delinsATC
ENST00000487525.5:c.385_387delinsATC ENSP00000431637.1:p.Val129Ile
ENST00000487921.5:n.297_299delinsATC
ENST00000583539.5:c.385_387delinsATC ENSP00000463121.1:p.Val129Ile
ENST00000584617.5:c.127-1523_127-1521delinsATC
ENST00000622327.4:c.121_123delinsATC ENSP00000482326.1:p.Val41Ile
ENST00000697675.1:n.1479_1481delinsATC
ENST00000697676.1:n.445_447delinsATC
ENST00000697677.1:n.1466_1468delinsATC
ENST00000697678.1:n.287_289delinsATC
ENST00000697679.1:n.1459_1461delinsATC
ENST00000697680.1:c.*1249_*1251delinsATC ENSP00000513392.1:n.*1249_*1251delinsATC
ENST00000697681.1:c.*1249_*1251delinsATC ENSP00000513393.1:n.*1249_*1251delinsATC
ENST00000697683.1:c.*1249_*1251delinsATC ENSP00000513395.1:n.*1249_*1251delinsATC
ENST00000697684.1:n.445_447delinsATC
ENST00000697685.1:c.*1249_*1251delinsATC ENSP00000513396.1:n.*1249_*1251delinsATC
ENST00000697686.1:c.34_36delinsATC ENSP00000513397.1:p.Val12Ile
ENST00000697687.1:n.431_433delinsATC
ENST00000697688.1:n.431_433delinsATC
ENST00000697689.1:c.*1088_*1090delinsATC ENSP00000513398.1:n.*1088_*1090delinsATC
ENST00000697690.1:c.385_387delinsATC ENSP00000513399.1:p.Val129Ile
ENST00000697691.1:c.*357_*359delinsATC ENSP00000513400.1:n.*357_*359delinsATC
ENST00000697692.1:c.*397_*399delinsATC ENSP00000513401.1:n.*397_*399delinsATC
ENST00000697693.1:n.1160_1162delinsATC
ENST00000697694.1:c.34_36delinsATC ENSP00000513402.1:p.Val12Ile
ENST00000697695.1:n.992_994delinsATC
XM_006722001.2:c.385_387delinsATC XP_006722064.1:p.Val129Ile
XM_006722001.4:c.385_387delinsATC XP_006722064.1:p.Val129Ile
XM_006722002.2:c.385_387delinsATC XP_006722065.1:p.Val129Ile
XM_006722002.4:c.385_387delinsATC XP_006722065.1:p.Val129Ile
XM_006722004.2:c.34_36delinsATC XP_006722067.1:p.Val12Ile
XM_006722004.3:c.34_36delinsATC XP_006722067.1:p.Val12Ile
XM_006722005.2:c.34_36delinsATC XP_006722068.1:p.Val12Ile
XM_006722005.3:c.34_36delinsATC XP_006722068.1:p.Val12Ile
XM_011525092.1:c.34_36delinsATC XP_011523394.1:p.Val12Ile
XM_011525092.2:c.34_36delinsATC XP_011523394.1:p.Val12Ile
XM_011525093.1:c.34_36delinsATC XP_011523395.1:p.Val12Ile
XM_011525093.2:c.34_36delinsATC XP_011523395.1:p.Val12Ile
XM_011525094.1:c.34_36delinsATC XP_011523396.1:p.Val12Ile
XM_011525094.2:c.34_36delinsATC XP_011523396.1:p.Val12Ile
XM_017024914.1:c.34_36delinsATC XP_016880403.1:p.Val12Ile
XM_017024915.1:c.34_36delinsATC XP_016880404.1:p.Val12Ile
XM_017024916.1:c.34_36delinsATC XP_016880405.1:p.Val12Ile
XM_017024917.1:c.34_36delinsATC XP_016880406.1:p.Val12Ile
XM_017024918.2:c.34_36delinsATC XP_016880407.1:p.Val12Ile
XM_017024919.1:c.34_36delinsATC XP_016880408.1:p.Val12Ile
XR_934513.1:n.458_460delinsATC
XR_934513.3:n.889_891delinsATC
XR_934514.1:n.458_460delinsATC
XR_934514.3:n.889_891delinsATC