Canonical Allele Identifier: CA1583233473

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1165557
• ClinVar RCV Id: RCV001512735
• dbSNP Id: rs1751207168
• gnomAD v4: 5-132618059-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618065del , CM000667.2:g.132618065del	GRCh38
NC_000005.9:g.131953757del , CM000667.1:g.131953757del	GRCh37
NC_000005.8:g.131981656del	NCBI36
NG_021151.1:g.66142del
NG_021151.2:g.66089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3165-5del MANE Select	ENSP00000368100.4:n.3165-5del
ENST00000638452.2:c.2868-5del	ENSP00000492349.2:n.2868-5del
ENST00000638504.1:n.2773-5del
ENST00000638568.2:c.2868-5del	ENSP00000491158.2:n.2868-5del
ENST00000639899.1:n.3684-5del
ENST00000640655.2:c.2868-5del	ENSP00000491596.2:n.2868-5del
ENST00000378823.7:c.3165-5del	ENSP00000368100.4:n.3165-5del
ENST00000533482.5:c.*2791-5del	ENSP00000431225.1:n.*2791-5del
NM_005732.3:c.3165-5del	NP_005723.2:n.3165-5del
NM_005732.4:c.3165-5del MANE Select	NP_005723.2:n.3165-5del