Canonical Allele Identifier: CA299907

Gene: RAD51C

Linked Data

• ClinVar Variation Id: 182845
• ClinVar RCV Id: RCV000160934 ; RCV000465754 ; RCV000569930 ; RCV001358597
• dbSNP Id: rs730881940
• ExAC: 17:56772535 G / GA
• gnomAD v2: 17-56772535-G-GA
• gnomAD v3: 17-58695174-G-GA
• gnomAD v4: 17-58695174-G-GA
• MyVariant Identifiers: chr17:g.56772540dupA (hg19) ; chr17:g.56772535_56772536insA (hg19) ; chr17:g.58695179dupA (hg38) ; chr17:g.58695174_58695175insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58695179dup , CM000679.2:g.58695179dup	GRCh38
NC_000017.10:g.56772540dup , CM000679.1:g.56772540dup	GRCh37
NC_000017.9:g.54127539dup	NCBI36
NG_023199.1:g.7578dup , LRG_314:g.7578dup
NG_047169.1:g.1905dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461271.6:c.43dup	ENSP00000464056.2:p.Thr15AsnfsTer23
ENST00000697675.1:n.1488dup
ENST00000697676.1:n.454dup
ENST00000697677.1:n.1475dup
ENST00000697678.1:n.296dup
ENST00000697679.1:n.1468dup
ENST00000697680.1:c.*1258dup	ENSP00000513392.1:n.*1258dup
ENST00000697681.1:c.*1258dup	ENSP00000513393.1:n.*1258dup
ENST00000697683.1:c.*1258dup	ENSP00000513395.1:n.*1258dup
ENST00000697684.1:n.454dup
ENST00000697685.1:c.*1258dup	ENSP00000513396.1:n.*1258dup
ENST00000697686.1:c.43dup	ENSP00000513397.1:p.Thr15AsnfsTer23
ENST00000697687.1:n.440dup
ENST00000697688.1:n.440dup
ENST00000697689.1:c.*1097dup	ENSP00000513398.1:n.*1097dup
ENST00000697690.1:c.394dup	ENSP00000513399.1:p.Thr132AsnfsTer23
ENST00000697691.1:c.*366dup	ENSP00000513400.1:n.*366dup
ENST00000697692.1:c.*406dup	ENSP00000513401.1:n.*406dup
ENST00000697693.1:n.1169dup
ENST00000697694.1:c.43dup	ENSP00000513402.1:p.Thr15AsnfsTer23
ENST00000697695.1:n.1001dup
ENST00000337432.9:c.394dup MANE Select	ENSP00000336701.4:p.Thr132AsnfsTer23
ENST00000337432.8:c.394dup	ENSP00000336701.4:p.Thr132AsnfsTer23
ENST00000413590.5:c.32dup
ENST00000421782.3:c.394dup	ENSP00000391450.2:p.Thr132AsnfsTer7
ENST00000425173.5:c.190dup	ENSP00000407282.1:p.Thr64AsnfsTer23
ENST00000461271.5:c.43dup	ENSP00000464056.1:p.Thr15AsnfsTer23
ENST00000475762.5:c.*1097dup	ENSP00000432421.1:n.*1097dup
ENST00000482007.5:c.394dup	ENSP00000433332.1:p.Thr132AsnfsTer?
ENST00000486827.1:c.*1258dup	ENSP00000436761.1:n.*1258dup
ENST00000487525.5:c.394dup	ENSP00000431637.1:p.Thr132AsnfsTer?
ENST00000487921.5:n.306dup
ENST00000583539.5:c.394dup	ENSP00000463121.1:p.Thr132AsnfsTer23
ENST00000584617.5:c.127-1514dup
ENST00000622327.4:c.130dup	ENSP00000482326.1:p.Thr44AsnfsTer23
NM_002876.3:c.394dup	NP_002867.1:p.Thr132AsnfsTer7
NM_058216.2:c.394dup	NP_478123.1:p.Thr132AsnfsTer23
NR_103872.1:n.465dup
NR_103873.1:n.362dup
XM_006722001.2:c.394dup	XP_006722064.1:p.Thr132AsnfsTer23
XM_006722002.2:c.394dup	XP_006722065.1:p.Thr132AsnfsTer23
XM_006722004.2:c.43dup	XP_006722067.1:p.Thr15AsnfsTer23
XM_006722005.2:c.43dup	XP_006722068.1:p.Thr15AsnfsTer23
XM_011525092.1:c.43dup	XP_011523394.1:p.Thr15AsnfsTer23
XM_011525093.1:c.43dup	XP_011523395.1:p.Thr15AsnfsTer23
XM_011525094.1:c.43dup	XP_011523396.1:p.Thr15AsnfsTer23
XR_934513.1:n.467dup
XR_934514.1:n.467dup
XM_006722001.4:c.394dup	XP_006722064.1:p.Thr132AsnfsTer23
XM_006722002.4:c.394dup	XP_006722065.1:p.Thr132AsnfsTer23
XM_006722004.3:c.43dup	XP_006722067.1:p.Thr15AsnfsTer23
XM_006722005.3:c.43dup	XP_006722068.1:p.Thr15AsnfsTer23
XM_011525092.2:c.43dup	XP_011523394.1:p.Thr15AsnfsTer23
XM_011525093.2:c.43dup	XP_011523395.1:p.Thr15AsnfsTer23
XM_011525094.2:c.43dup	XP_011523396.1:p.Thr15AsnfsTer23
XM_017024914.1:c.43dup	XP_016880403.1:p.Thr15AsnfsTer23
XM_017024915.1:c.43dup	XP_016880404.1:p.Thr15AsnfsTer23
XM_017024916.1:c.43dup	XP_016880405.1:p.Thr15AsnfsTer23
XM_017024917.1:c.43dup	XP_016880406.1:p.Thr15AsnfsTer23
XM_017024918.2:c.43dup	XP_016880407.1:p.Thr15AsnfsTer23
XM_017024919.1:c.43dup	XP_016880408.1:p.Thr15AsnfsTer23
XR_934513.3:n.898dup
XR_934514.3:n.898dup
NM_058216.3:c.394dup MANE Select	NP_478123.1:p.Thr132AsnfsTer23
NR_103872.2:n.436dup
NM_002876.4:c.394dup	NP_002867.1:p.Thr132AsnfsTer7