Canonical Allele Identifier: CA2675217337

Gene: RAD50

Linked Data

• gnomAD v4: 5-132589951-TATTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589954_132589959del , CM000667.2:g.132589954_132589959del	GRCh38
NC_000005.9:g.131925646_131925651del , CM000667.1:g.131925646_131925651del	GRCh37
NC_000005.8:g.131953545_131953550del	NCBI36
NG_021151.1:g.38031_38036del
NG_021151.2:g.37978_37983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1452+117_1452+122del MANE Select	ENSP00000368100.4:n.1452+117_1452+122del
ENST00000638452.2:c.1155+117_1155+122del	ENSP00000492349.2:n.1155+117_1155+122del
ENST00000638504.1:n.1138+117_1138+122del
ENST00000638568.2:c.1155+117_1155+122del	ENSP00000491158.2:n.1155+117_1155+122del
ENST00000639899.1:n.1971+117_1971+122del
ENST00000640655.2:c.1155+117_1155+122del	ENSP00000491596.2:n.1155+117_1155+122del
ENST00000651160.1:c.1452+117_1452+122del	ENSP00000498829.1:n.1452+117_1452+122del
ENST00000651541.1:c.1155+117_1155+122del	ENSP00000498795.1:n.1155+117_1155+122del
ENST00000651658.1:n.1879+117_1879+122del
ENST00000651723.1:c.*1535+117_*1535+122del	ENSP00000498237.1:n.*1535+117_*1535+122del
ENST00000652016.1:c.1452+117_1452+122del	ENSP00000498267.1:n.1452+117_1452+122del
ENST00000652485.1:c.1452+117_1452+122del	ENSP00000498973.1:n.1452+117_1452+122del
ENST00000378823.7:c.1452+117_1452+122del	ENSP00000368100.4:n.1452+117_1452+122del
ENST00000423956.5:c.1452+117_1452+122del	ENSP00000390971.1:n.1452+117_1452+122del
ENST00000453394.5:c.1452+117_1452+122del	ENSP00000400049.1:n.1452+117_1452+122del
ENST00000533482.5:c.*1078+117_*1078+122del	ENSP00000431225.1:n.*1078+117_*1078+122del
NM_005732.3:c.1452+117_1452+122del	NP_005723.2:n.1452+117_1452+122del
NM_005732.4:c.1452+117_1452+122del MANE Select	NP_005723.2:n.1452+117_1452+122del