Canonical Allele Identifier: CA2573138988

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1541576
• ClinVar RCV Id: RCV002164648
• dbSNP Id: rs2149849804

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609263_132609267del , CM000667.2:g.132609263_132609267del	GRCh38
NC_000005.9:g.131944955_131944959del , CM000667.1:g.131944955_131944959del	GRCh37
NC_000005.8:g.131972854_131972858del	NCBI36
NG_021151.1:g.57340_57344del
NG_021151.2:g.57287_57291del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2923-20_2923-16del MANE Select	ENSP00000368100.4:n.2923-20_2923-16del
ENST00000638452.2:c.2626-20_2626-16del	ENSP00000492349.2:n.2626-20_2626-16del
ENST00000638504.1:n.2531-20_2531-16del
ENST00000638568.2:c.2626-20_2626-16del	ENSP00000491158.2:n.2626-20_2626-16del
ENST00000639899.1:n.3442-20_3442-16del
ENST00000640655.2:c.2626-20_2626-16del	ENSP00000491596.2:n.2626-20_2626-16del
ENST00000651160.1:c.*1067-20_*1067-16del	ENSP00000498829.1:n.*1067-20_*1067-16del
ENST00000651723.1:c.*3006-20_*3006-16del	ENSP00000498237.1:n.*3006-20_*3006-16del
ENST00000378823.7:c.2923-20_2923-16del	ENSP00000368100.4:n.2923-20_2923-16del
ENST00000423956.5:c.*1109-20_*1109-16del	ENSP00000390971.1:n.*1109-20_*1109-16del
ENST00000533482.5:c.*2549-20_*2549-16del	ENSP00000431225.1:n.*2549-20_*2549-16del
NM_005732.3:c.2923-20_2923-16del	NP_005723.2:n.2923-20_2923-16del
NM_005732.4:c.2923-20_2923-16del MANE Select	NP_005723.2:n.2923-20_2923-16del