Canonical Allele Identifier: CA331897

Gene: RAD51C

Linked Data

• ClinVar Variation Id: 128201
• ClinVar RCV Id: RCV000116170 ; RCV000197293 ; RCV000235204 ; RCV000456115 ; RCV000576756 ; RCV001171470 ; RCV001194265 ; RCV001271004 ; RCV003128147 ; RCV003492508
• dbSNP Id: rs587781410
• ExAC: 17:56809908 CAGT / C
• gnomAD v2: 17-56809908-CAGT-C
• gnomAD v3: 17-58732547-CAGT-C
• gnomAD v4: 17-58732547-CAGT-C
• MyVariant Identifiers: chr17:g.56809910_56809912del (hg19) ; chr17:g.56809909_56809911del (hg19) ; chr17:g.58732549_58732551del (hg38) ; chr17:g.58732548_58732550del (hg38)
• PubMed: PMID:12966089 ; PMID:22538716 ; PMID:24139550 ; PMID:26057125 ; PMID:26681312 ; PMID:27616075 ; PMID:27621404 ; PMID:28905878

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58732549_58732551del , CM000679.2:g.58732549_58732551del	GRCh38
NC_000017.10:g.56809910_56809912del , CM000679.1:g.56809910_56809912del	GRCh37
NC_000017.9:g.54164909_54164911del	NCBI36
NG_023199.1:g.44948_44950del , LRG_314:g.44948_44950del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461271.6:c.680_682del	ENSP00000464056.2:p.Ser227del
ENST00000697680.1:c.*1990+5_*1990+7del	ENSP00000513392.1:n.*1990+5_*1990+7del
ENST00000697681.1:c.*2187+5_*2187+7del	ENSP00000513393.1:n.*2187+5_*2187+7del
ENST00000697683.1:c.*1962+5_*1962+7del	ENSP00000513395.1:n.*1962+5_*1962+7del
ENST00000697685.1:c.*1723+5_*1723+7del	ENSP00000513396.1:n.*1723+5_*1723+7del
ENST00000697686.1:c.797+5_797+7del	ENSP00000513397.1:n.797+5_797+7del
ENST00000697689.1:c.*1441-1569_*1441-1567del	ENSP00000513398.1:n.*1441-1569_*1441-1567...
ENST00000697690.1:c.905-1569_905-1567del	ENSP00000513399.1:n.905-1569_905-1567del
ENST00000697691.1:c.*998+5_*998+7del	ENSP00000513400.1:n.*998+5_*998+7del
ENST00000697692.1:c.*1038+5_*1038+7del	ENSP00000513401.1:n.*1038+5_*1038+7del
ENST00000697694.1:c.675+5_675+7del	ENSP00000513402.1:n.675+5_675+7del
ENST00000697695.1:n.1633+5_1633+7del
ENST00000337432.9:c.1026+5_1026+7del MANE Select	ENSP00000336701.4:n.1026+5_1026+7del
ENST00000337432.8:c.1026+5_1026+7del	ENSP00000336701.4:n.1026+5_1026+7del
ENST00000413590.5:c.667+5_667+7del
ENST00000461706.1:n.213+5_213+7del
ENST00000475762.5:c.*1662+5_*1662+7del	ENSP00000432421.1:n.*1662+5_*1662+7del
ENST00000482007.5:c.*454+5_*454+7del	ENSP00000433332.1:n.*454+5_*454+7del
ENST00000487525.5:c.*602+5_*602+7del	ENSP00000431637.1:n.*602+5_*602+7del
ENST00000578151.1:n.240-1569_240-1567del
ENST00000581221.5:n.541+5_541+7del
ENST00000583539.5:c.1031_1033del	ENSP00000463121.1:p.Ser344del
ENST00000584804.1:c.260+5_260+7del	ENSP00000463658.1:n.260+5_260+7del
NM_058216.2:c.1026+5_1026+7del	NP_478123.1:n.1026+5_1026+7del
NR_103872.1:n.930+5_930+7del
XM_006722001.2:c.1029+5_1029+7del	XP_006722064.1:n.1029+5_1029+7del
XM_006722002.2:c.965+5_965+7del	XP_006722065.1:n.965+5_965+7del
XM_006722004.2:c.678+5_678+7del	XP_006722067.1:n.678+5_678+7del
XM_006722005.2:c.678+5_678+7del	XP_006722068.1:n.678+5_678+7del
XM_011525092.1:c.678+5_678+7del	XP_011523394.1:n.678+5_678+7del
XM_011525093.1:c.678+5_678+7del	XP_011523395.1:n.678+5_678+7del
XM_011525094.1:c.678+5_678+7del	XP_011523396.1:n.678+5_678+7del
XR_934513.1:n.1244+5_1244+7del
XR_934514.1:n.1247+5_1247+7del
XR_934886.1:n.149+5521_149+5523del
XM_006722001.4:c.1029+5_1029+7del	XP_006722064.1:n.1029+5_1029+7del
XM_006722002.4:c.965+5_965+7del	XP_006722065.1:n.965+5_965+7del
XM_006722004.3:c.678+5_678+7del	XP_006722067.1:n.678+5_678+7del
XM_006722005.3:c.678+5_678+7del	XP_006722068.1:n.678+5_678+7del
XM_011525092.2:c.678+5_678+7del	XP_011523394.1:n.678+5_678+7del
XM_011525093.2:c.678+5_678+7del	XP_011523395.1:n.678+5_678+7del
XM_011525094.2:c.678+5_678+7del	XP_011523396.1:n.678+5_678+7del
XM_017024914.1:c.675+5_675+7del	XP_016880403.1:n.675+5_675+7del
XM_017024915.1:c.675+5_675+7del	XP_016880404.1:n.675+5_675+7del
XM_017024916.1:c.675+5_675+7del	XP_016880405.1:n.675+5_675+7del
XM_017024917.1:c.675+5_675+7del	XP_016880406.1:n.675+5_675+7del
XM_017024918.2:c.675+5_675+7del	XP_016880407.1:n.675+5_675+7del
XM_017024919.1:c.614+5_614+7del	XP_016880408.1:n.614+5_614+7del
XR_934513.3:n.1675+5_1675+7del
XR_934514.3:n.1678+5_1678+7del
XR_934886.2:n.149+5521_149+5523del
NM_058216.3:c.1026+5_1026+7del MANE Select	NP_478123.1:n.1026+5_1026+7del
NR_103872.2:n.901+5_901+7del