Canonical Allele Identifier: CA3405105

Gene: RAD50

Linked Data

• ClinVar Variation Id: 548715
• ClinVar RCV Id: RCV000662373 ; RCV002060792
• dbSNP Id: rs757412385
• ExAC: 5:131924362 GA / G
• gnomAD v2: 5-131924362-GA-G
• gnomAD v3: 5-132588670-GA-G
• gnomAD v4: 5-132588670-GA-G
• MyVariant Identifiers: chr5:g.131924363del (hg19) ; chr5:g.132588671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588671del , CM000667.2:g.132588671del	GRCh38
NC_000005.9:g.131924363del , CM000667.1:g.131924363del	GRCh37
NC_000005.8:g.131952262del	NCBI36
NG_021151.1:g.36748del
NG_021151.2:g.36695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1052-16del MANE Select	ENSP00000368100.4:n.1052-16del
ENST00000638452.2:c.755-16del	ENSP00000492349.2:n.755-16del
ENST00000638504.1:n.738-16del
ENST00000638568.2:c.755-16del	ENSP00000491158.2:n.755-16del
ENST00000639899.1:n.1571-16del
ENST00000640655.2:c.755-16del	ENSP00000491596.2:n.755-16del
ENST00000651160.1:c.1052-16del	ENSP00000498829.1:n.1052-16del
ENST00000651541.1:c.755-16del	ENSP00000498795.1:n.755-16del
ENST00000651658.1:n.1479-16del
ENST00000651723.1:c.*1135-16del	ENSP00000498237.1:n.*1135-16del
ENST00000652016.1:c.1052-16del	ENSP00000498267.1:n.1052-16del
ENST00000652485.1:c.1052-16del	ENSP00000498973.1:n.1052-16del
ENST00000378823.7:c.1052-16del	ENSP00000368100.4:n.1052-16del
ENST00000423956.5:c.1052-16del	ENSP00000390971.1:n.1052-16del
ENST00000453394.5:c.1052-16del	ENSP00000400049.1:n.1052-16del
ENST00000487596.1:n.618-16del
ENST00000533482.5:c.*678-16del	ENSP00000431225.1:n.*678-16del
NM_005732.3:c.1052-16del	NP_005723.2:n.1052-16del
NM_005732.4:c.1052-16del MANE Select	NP_005723.2:n.1052-16del