Canonical Allele Identifier: CA891842967

Gene: RAD50

Linked Data

• ClinVar Variation Id: 573490
• ClinVar RCV Id: RCV000695181
• dbSNP Id: rs1561627110
• MyVariant Identifiers: chr5:g.131893148_131893157del (hg19) ; chr5:g.132557456_132557465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557456_132557465del , CM000667.2:g.132557456_132557465del	GRCh38
NC_000005.9:g.131893148_131893157del , CM000667.1:g.131893148_131893157del	GRCh37
NC_000005.8:g.131921047_131921056del	NCBI36
NG_021151.1:g.5533_5542del
NG_021151.2:g.5480_5489del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.129+3_129+12del MANE Select	ENSP00000368100.4:n.129+3_129+12del
ENST00000638452.2:c.-168-1828_-168-1819del	ENSP00000492349.2:n.-168-1828_-168-1819de...
ENST00000638504.1:n.207-1828_207-1819del
ENST00000638568.2:c.-169+983_-169+992del	ENSP00000491158.2:n.-169+983_-169+992del
ENST00000639899.1:n.290-1828_290-1819del
ENST00000640655.2:c.-168-1828_-168-1819del	ENSP00000491596.2:n.-168-1828_-168-1819de...
ENST00000651160.1:c.129+3_129+12del	ENSP00000498829.1:n.129+3_129+12del
ENST00000651541.1:c.-169+447_-169+456del	ENSP00000498795.1:n.-169+447_-169+456del
ENST00000651658.1:n.197+3_197+12del
ENST00000651723.1:c.132_141del	ENSP00000498237.1:p.Leu46ArgfsTer22
ENST00000652016.1:c.129+3_129+12del	ENSP00000498267.1:n.129+3_129+12del
ENST00000652485.1:c.129+3_129+12del	ENSP00000498973.1:n.129+3_129+12del
ENST00000378823.7:c.129+3_129+12del	ENSP00000368100.4:n.129+3_129+12del
ENST00000416135.5:c.-169+983_-169+992del	ENSP00000389515.1:n.-169+983_-169+992del
ENST00000423956.5:c.129+3_129+12del	ENSP00000390971.1:n.129+3_129+12del
ENST00000453394.5:c.129+3_129+12del	ENSP00000400049.1:n.129+3_129+12del
ENST00000533482.5:c.129+3_129+12del	ENSP00000431225.1:n.129+3_129+12del
NM_005732.3:c.129+3_129+12del	NP_005723.2:n.129+3_129+12del
NM_005732.4:c.129+3_129+12del MANE Select	NP_005723.2:n.129+3_129+12del