Canonical Allele Identifier: CA563057471

Gene: RAD50

Linked Data

• ClinVar Variation Id: 818961
• ClinVar RCV Id: RCV001011088
• dbSNP Id: rs1272811865
• gnomAD v2: 5-131925425-CTAAG-C
• gnomAD v4: 5-132589733-CTAAG-C
• MyVariant Identifiers: chr5:g.131925426_131925429del (hg19) ; chr5:g.132589734_132589737del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589738_132589741del , CM000667.2:g.132589738_132589741del	GRCh38
NC_000005.9:g.131925430_131925433del , CM000667.1:g.131925430_131925433del	GRCh37
NC_000005.8:g.131953329_131953332del	NCBI36
NG_021151.1:g.37815_37818del
NG_021151.2:g.37762_37765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1353_1356del MANE Select	ENSP00000368100.4:p.Ser451ArgfsTer6
ENST00000638452.2:c.1056_1059del	ENSP00000492349.2:p.Ser352ArgfsTer6
ENST00000638504.1:n.1039_1042del
ENST00000638568.2:c.1056_1059del	ENSP00000491158.2:p.Ser352ArgfsTer6
ENST00000639899.1:n.1872_1875del
ENST00000640655.2:c.1056_1059del	ENSP00000491596.2:p.Ser352ArgfsTer6
ENST00000651160.1:c.1353_1356del	ENSP00000498829.1:p.Ser451ArgfsTer6
ENST00000651541.1:c.1056_1059del	ENSP00000498795.1:p.Ser352ArgfsTer6
ENST00000651658.1:n.1780_1783del
ENST00000651723.1:c.*1436_*1439del	ENSP00000498237.1:n.*1436_*1439del
ENST00000652016.1:c.1353_1356del	ENSP00000498267.1:p.Ser451ArgfsTer6
ENST00000652485.1:c.1353_1356del	ENSP00000498973.1:p.Ser451ArgfsTer6
ENST00000378823.7:c.1353_1356del	ENSP00000368100.4:p.Ser451ArgfsTer6
ENST00000423956.5:c.1353_1356del	ENSP00000390971.1:p.Ser451ArgfsTer6
ENST00000453394.5:c.1353_1356del	ENSP00000400049.1:p.Ser451ArgfsTer6
ENST00000533482.5:c.*979_*982del	ENSP00000431225.1:n.*979_*982del
NM_005732.3:c.1353_1356del	NP_005723.2:p.Ser451ArgfsTer6
NM_005732.4:c.1353_1356del MANE Select	NP_005723.2:p.Ser451ArgfsTer6