Canonical Allele Identifier: CA3405469

Gene: RAD50

Linked Data

• ClinVar Variation Id: 821926
• ClinVar RCV Id: RCV001016828
• dbSNP Id: rs778314595
• ExAC: 5:131944842 CATGGCT / C
• MyVariant Identifiers: chr5:g.131944843_131944848del (hg19) ; chr5:g.132609151_132609156del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609153_132609158del , CM000667.2:g.132609153_132609158del	GRCh38
NC_000005.9:g.131944845_131944850del , CM000667.1:g.131944845_131944850del	GRCh37
NC_000005.8:g.131972744_131972749del	NCBI36
NG_021151.1:g.57230_57235del
NG_021151.2:g.57177_57182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2866_2871del MANE Select	ENSP00000368100.4:p.Gly956_Tyr957del
ENST00000638452.2:c.2569_2574del	ENSP00000492349.2:p.Gly857_Tyr858del
ENST00000638504.1:n.2474_2479del
ENST00000638568.2:c.2569_2574del	ENSP00000491158.2:p.Gly857_Tyr858del
ENST00000639899.1:n.3385_3390del
ENST00000640655.2:c.2569_2574del	ENSP00000491596.2:p.Gly857_Tyr858del
ENST00000651160.1:c.*1010_*1015del	ENSP00000498829.1:n.*1010_*1015del
ENST00000651723.1:c.*2949_*2954del	ENSP00000498237.1:n.*2949_*2954del
ENST00000378823.7:c.2866_2871del	ENSP00000368100.4:p.Gly956_Tyr957del
ENST00000423956.5:c.*1052_*1057del	ENSP00000390971.1:n.*1052_*1057del
ENST00000533482.5:c.*2492_*2497del	ENSP00000431225.1:n.*2492_*2497del
NM_005732.3:c.2866_2871del	NP_005723.2:p.Gly956_Tyr957del
NM_005732.4:c.2866_2871del MANE Select	NP_005723.2:p.Gly956_Tyr957del