Canonical Allele Identifier: CA1583226840

Gene: RAD50

Linked Data

• dbSNP Id: rs1750459143

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579326_132579339del , CM000667.2:g.132579326_132579339del	GRCh38
NC_000005.9:g.131915018_131915031del , CM000667.1:g.131915018_131915031del	GRCh37
NC_000005.8:g.131942917_131942930del	NCBI36
NG_021151.1:g.27403_27416del
NG_021151.2:g.27350_27363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.375_388del MANE Select	ENSP00000368100.4:p.Lys126LeufsTer2
ENST00000638452.2:c.78_91del	ENSP00000492349.2:p.Lys27LeufsTer2
ENST00000638504.1:n.442+3398_442+3411del
ENST00000638568.2:c.78_91del	ENSP00000491158.2:p.Lys27LeufsTer2
ENST00000639899.1:n.535_548del
ENST00000640655.2:c.78_91del	ENSP00000491596.2:p.Lys27LeufsTer2
ENST00000651160.1:c.375_388del	ENSP00000498829.1:p.Lys126LeufsTer2
ENST00000651541.1:c.78_91del	ENSP00000498795.1:p.Lys27LeufsTer2
ENST00000651658.1:n.443_456del
ENST00000651723.1:c.*458_*471del	ENSP00000498237.1:n.*458_*471del
ENST00000652016.1:c.375_388del	ENSP00000498267.1:p.Lys126LeufsTer2
ENST00000652485.1:c.375_388del	ENSP00000498973.1:p.Lys126LeufsTer2
ENST00000378823.7:c.375_388del	ENSP00000368100.4:p.Lys126LeufsTer2
ENST00000416135.5:c.78_91del	ENSP00000389515.1:p.Lys27LeufsTer2
ENST00000423956.5:c.375_388del	ENSP00000390971.1:p.Lys126LeufsTer2
ENST00000453394.5:c.375_388del	ENSP00000400049.1:p.Lys126LeufsTer2
ENST00000533482.5:c.*1_*14del	ENSP00000431225.1:n.*1_*14del
NM_005732.3:c.375_388del	NP_005723.2:p.Lys126LeufsTer2
NM_005732.4:c.375_388del MANE Select	NP_005723.2:p.Lys126LeufsTer2