Canonical Allele Identifier: CA658657513

Gene: RAD50

Linked Data

• ClinVar Variation Id: 484664
• ClinVar RCV Id: RCV000561558
• dbSNP Id: rs1554098584
• gnomAD v4: 5-132594896-T-TA
• MyVariant Identifiers: chr5:g.131930593dup (hg19) ; chr5:g.132594901dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594901dup , CM000667.2:g.132594901dup	GRCh38
NC_000005.9:g.131930593dup , CM000667.1:g.131930593dup	GRCh37
NC_000005.8:g.131958492dup	NCBI36
NG_021151.1:g.42978dup
NG_021151.2:g.42925dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1826dup MANE Select	ENSP00000368100.4:p.Asn609LysfsTer5
ENST00000638452.2:c.1529dup	ENSP00000492349.2:p.Asn510LysfsTer5
ENST00000638504.1:n.1480-203dup
ENST00000638568.2:c.1529dup	ENSP00000491158.2:p.Asn510LysfsTer5
ENST00000639899.1:n.2345dup
ENST00000640655.2:c.1529dup	ENSP00000491596.2:p.Asn510LysfsTer5
ENST00000651160.1:c.*16-203dup	ENSP00000498829.1:n.*16-203dup
ENST00000651658.1:n.2369dup
ENST00000651723.1:c.*1909dup	ENSP00000498237.1:n.*1909dup
ENST00000652016.1:c.*89-203dup	ENSP00000498267.1:n.*89-203dup
ENST00000652485.1:c.1859dup	ENSP00000498973.1:p.Asn620LysfsTer5
ENST00000378823.7:c.1826dup	ENSP00000368100.4:p.Asn609LysfsTer5
ENST00000423956.5:c.*12dup	ENSP00000390971.1:n.*12dup
ENST00000453394.5:c.1643dup	ENSP00000400049.1:p.Asn548LysfsTer5
ENST00000533482.5:c.*1452dup	ENSP00000431225.1:n.*1452dup
NM_005732.3:c.1826dup	NP_005723.2:p.Asn609LysfsTer5
NM_005732.4:c.1826dup MANE Select	NP_005723.2:p.Asn609LysfsTer5