Canonical Allele Identifier: CA3405336

Gene: RAD50

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595768del , CM000667.2:g.132595768del	GRCh38
NC_000005.9:g.131931460del , CM000667.1:g.131931460del	GRCh37
NC_000005.8:g.131959359del	NCBI36
NG_021151.1:g.43845del
NG_021151.2:g.43792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2165del MANE Select	ENSP00000368100.4:p.Lys722ArgfsTer14
ENST00000638452.2:c.1868del	ENSP00000492349.2:p.Lys623ArgfsTer14
ENST00000638504.1:n.1773del
ENST00000638568.2:c.1868del	ENSP00000491158.2:p.Lys623ArgfsTer14
ENST00000639899.1:n.2684del
ENST00000640655.2:c.1868del	ENSP00000491596.2:p.Lys623ArgfsTer14
ENST00000651160.1:c.*309del	ENSP00000498829.1:n.*309del
ENST00000651658.1:n.2708del
ENST00000651723.1:c.*2248del	ENSP00000498237.1:n.*2248del
ENST00000652016.1:c.*382del	ENSP00000498267.1:n.*382del
ENST00000652485.1:c.2198del	ENSP00000498973.1:p.Lys733ArgfsTer14
ENST00000378823.7:c.2165del	ENSP00000368100.4:p.Lys722ArgfsTer14
ENST00000423956.5:c.*351del	ENSP00000390971.1:n.*351del
ENST00000453394.5:c.1982del
ENST00000496204.1:n.248del
ENST00000533482.5:c.*1791del	ENSP00000431225.1:n.*1791del
NM_005732.3:c.2165del	NP_005723.2:p.Lys722ArgfsTer14
NM_005732.4:c.2165del MANE Select	NP_005723.2:p.Lys722ArgfsTer14