Canonical Allele Identifier: CA2675217336

Gene: RAD50

Linked Data

• gnomAD v4: 5-132589949-CTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589952_132589954del , CM000667.2:g.132589952_132589954del	GRCh38
NC_000005.9:g.131925644_131925646del , CM000667.1:g.131925644_131925646del	GRCh37
NC_000005.8:g.131953543_131953545del	NCBI36
NG_021151.1:g.38029_38031del
NG_021151.2:g.37976_37978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1452+115_1452+117del MANE Select	ENSP00000368100.4:n.1452+115_1452+117del
ENST00000638452.2:c.1155+115_1155+117del	ENSP00000492349.2:n.1155+115_1155+117del
ENST00000638504.1:n.1138+115_1138+117del
ENST00000638568.2:c.1155+115_1155+117del	ENSP00000491158.2:n.1155+115_1155+117del
ENST00000639899.1:n.1971+115_1971+117del
ENST00000640655.2:c.1155+115_1155+117del	ENSP00000491596.2:n.1155+115_1155+117del
ENST00000651160.1:c.1452+115_1452+117del	ENSP00000498829.1:n.1452+115_1452+117del
ENST00000651541.1:c.1155+115_1155+117del	ENSP00000498795.1:n.1155+115_1155+117del
ENST00000651658.1:n.1879+115_1879+117del
ENST00000651723.1:c.*1535+115_*1535+117del	ENSP00000498237.1:n.*1535+115_*1535+117del
ENST00000652016.1:c.1452+115_1452+117del	ENSP00000498267.1:n.1452+115_1452+117del
ENST00000652485.1:c.1452+115_1452+117del	ENSP00000498973.1:n.1452+115_1452+117del
ENST00000378823.7:c.1452+115_1452+117del	ENSP00000368100.4:n.1452+115_1452+117del
ENST00000423956.5:c.1452+115_1452+117del	ENSP00000390971.1:n.1452+115_1452+117del
ENST00000453394.5:c.1452+115_1452+117del	ENSP00000400049.1:n.1452+115_1452+117del
ENST00000533482.5:c.*1078+115_*1078+117del	ENSP00000431225.1:n.*1078+115_*1078+117del
NM_005732.3:c.1452+115_1452+117del	NP_005723.2:n.1452+115_1452+117del
NM_005732.4:c.1452+115_1452+117del MANE Select	NP_005723.2:n.1452+115_1452+117del