Canonical Allele Identifier: CA658657505

Gene: RAD50

Linked Data

• ClinVar Variation Id: 457371
• ClinVar RCV Id: RCV000539825
• dbSNP Id: rs1554098307
• MyVariant Identifiers: chr5:g.131925356_131925358del (hg19) ; chr5:g.132589664_132589666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589664_132589666del , CM000667.2:g.132589664_132589666del	GRCh38
NC_000005.9:g.131925356_131925358del , CM000667.1:g.131925356_131925358del	GRCh37
NC_000005.8:g.131953255_131953257del	NCBI36
NG_021151.1:g.37741_37743del
NG_021151.2:g.37688_37690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1279_1281del MANE Select	ENSP00000368100.4:p.Lys427del
ENST00000638452.2:c.982_984del	ENSP00000492349.2:p.Lys328del
ENST00000638504.1:n.965_967del
ENST00000638568.2:c.982_984del	ENSP00000491158.2:p.Lys328del
ENST00000639899.1:n.1798_1800del
ENST00000640655.2:c.982_984del	ENSP00000491596.2:p.Lys328del
ENST00000651160.1:c.1279_1281del	ENSP00000498829.1:p.Lys427del
ENST00000651541.1:c.982_984del	ENSP00000498795.1:p.Lys328del
ENST00000651658.1:n.1706_1708del
ENST00000651723.1:c.*1362_*1364del	ENSP00000498237.1:n.*1362_*1364del
ENST00000652016.1:c.1279_1281del	ENSP00000498267.1:p.Lys427del
ENST00000652485.1:c.1279_1281del	ENSP00000498973.1:p.Lys427del
ENST00000378823.7:c.1279_1281del	ENSP00000368100.4:p.Lys427del
ENST00000423956.5:c.1279_1281del	ENSP00000390971.1:p.Lys427del
ENST00000453394.5:c.1279_1281del	ENSP00000400049.1:p.Lys427del
ENST00000533482.5:c.*905_*907del	ENSP00000431225.1:n.*905_*907del
NM_005732.3:c.1279_1281del	NP_005723.2:p.Lys427del
NM_005732.4:c.1279_1281del MANE Select	NP_005723.2:p.Lys427del