Canonical Allele Identifier: CA3057243416
Community Standard Title: NM_058216.3(RAD51C):c.1047_1048delinsGC (p.Val350Leu)
Gene: RAD51C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58734138_58734139delinsGC , CM000679.2:g.58734138_58734139delinsGC GRCh38
NC_000017.10:g.56811499_56811500delinsGC , CM000679.1:g.56811499_56811500delinsGC GRCh37
NC_000017.9:g.54166498_54166499delinsGC NCBI36
NG_023199.1:g.46537_46538delinsGC , LRG_314:g.46537_46538delinsGC

Transcript Alleles

HGVS Amino-acid Change
NM_058216.3:c.1047_1048delinsGC MANE Select NP_478123.1:p.Val350Leu
ENST00000337432.9:c.1047_1048delinsGC MANE Select ENSP00000336701.4:p.Val350Leu
NM_058216.2:c.1047_1048delinsGC NP_478123.1:p.Val350Leu
NR_103872.1:n.951_952delinsGC
NR_103872.2:n.922_923delinsGC
ENST00000337432.8:c.1047_1048delinsGC ENSP00000336701.4:p.Val350Leu
ENST00000413590.5:c.688_689delinsGC
ENST00000461271.6:c.*1579_*1580delinsGC ENSP00000464056.2:n.*1579_*1580delinsGC
ENST00000461706.1:n.234_235delinsGC
ENST00000475762.5:c.*1683_*1684delinsGC ENSP00000432421.1:n.*1683_*1684delinsGC
ENST00000482007.5:c.*475_*476delinsGC ENSP00000433332.1:n.*475_*476delinsGC
ENST00000487525.5:c.*623_*624delinsGC ENSP00000431637.1:n.*623_*624delinsGC
ENST00000578151.1:n.260_261delinsGC
ENST00000581221.5:n.562_563delinsGC
ENST00000584804.1:c.281_282delinsGC ENSP00000463658.1:p.Leu94Arg
ENST00000697680.1:c.*2011_*2012delinsGC ENSP00000513392.1:n.*2011_*2012delinsGC
ENST00000697681.1:c.*2208_*2209delinsGC ENSP00000513393.1:n.*2208_*2209delinsGC
ENST00000697683.1:c.*1983_*1984delinsGC ENSP00000513395.1:n.*1983_*1984delinsGC
ENST00000697685.1:c.*1744_*1745delinsGC ENSP00000513396.1:n.*1744_*1745delinsGC
ENST00000697686.1:c.818_819delinsGC ENSP00000513397.1:p.Leu273Arg
ENST00000697689.1:c.*1461_*1462delinsGC ENSP00000513398.1:n.*1461_*1462delinsGC
ENST00000697690.1:c.*7_*8delinsGC ENSP00000513399.1:n.*7_*8delinsGC
ENST00000697691.1:c.*1019_*1020delinsGC ENSP00000513400.1:n.*1019_*1020delinsGC
ENST00000697692.1:c.*1059_*1060delinsGC ENSP00000513401.1:n.*1059_*1060delinsGC
ENST00000697694.1:c.696_697delinsGC ENSP00000513402.1:p.Val233Leu
ENST00000697695.1:n.1654_1655delinsGC
XM_006722001.2:c.1050_1051delinsGC XP_006722064.1:p.Val351Leu
XM_006722001.4:c.1050_1051delinsGC XP_006722064.1:p.Val351Leu
XM_006722002.2:c.986_987delinsGC XP_006722065.1:p.Leu329Arg
XM_006722002.4:c.986_987delinsGC XP_006722065.1:p.Leu329Arg
XM_006722004.2:c.699_700delinsGC XP_006722067.1:p.Val234Leu
XM_006722004.3:c.699_700delinsGC XP_006722067.1:p.Val234Leu
XM_006722005.2:c.699_700delinsGC XP_006722068.1:p.Val234Leu
XM_006722005.3:c.699_700delinsGC XP_006722068.1:p.Val234Leu
XM_011525092.1:c.699_700delinsGC XP_011523394.1:p.Val234Leu
XM_011525092.2:c.699_700delinsGC XP_011523394.1:p.Val234Leu
XM_011525093.1:c.699_700delinsGC XP_011523395.1:p.Val234Leu
XM_011525093.2:c.699_700delinsGC XP_011523395.1:p.Val234Leu
XM_011525094.1:c.699_700delinsGC XP_011523396.1:p.Val234Leu
XM_011525094.2:c.699_700delinsGC XP_011523396.1:p.Val234Leu
XM_017024914.1:c.696_697delinsGC XP_016880403.1:p.Val233Leu
XM_017024915.1:c.696_697delinsGC XP_016880404.1:p.Val233Leu
XM_017024916.1:c.696_697delinsGC XP_016880405.1:p.Val233Leu
XM_017024917.1:c.696_697delinsGC XP_016880406.1:p.Val233Leu
XM_017024918.2:c.696_697delinsGC XP_016880407.1:p.Val233Leu
XM_017024919.1:c.635_636delinsGC XP_016880408.1:p.Leu212Arg
XR_934513.1:n.1265_1266delinsGC
XR_934513.3:n.1696_1697delinsGC
XR_934514.1:n.1268_1269delinsGC
XR_934514.3:n.1699_1700delinsGC
XR_934886.1:n.149+3932_149+3933delinsGC
XR_934886.2:n.149+3932_149+3933delinsGC