Canonical Allele Identifier: CA1081651273

Gene: RAD50

Linked Data

• dbSNP Id: rs1750671222
• gnomAD v3: 5-132590045-GC-G
• gnomAD v4: 5-132590045-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132590046del , CM000667.2:g.132590046del	GRCh38
NC_000005.9:g.131925738del , CM000667.1:g.131925738del	GRCh37
NC_000005.8:g.131953637del	NCBI36
NG_021151.1:g.38123del
NG_021151.2:g.38070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1452+209del MANE Select	ENSP00000368100.4:n.1452+209del
ENST00000638452.2:c.1155+209del	ENSP00000492349.2:n.1155+209del
ENST00000638504.1:n.1138+209del
ENST00000638568.2:c.1155+209del	ENSP00000491158.2:n.1155+209del
ENST00000639899.1:n.1971+209del
ENST00000640655.2:c.1155+209del	ENSP00000491596.2:n.1155+209del
ENST00000651160.1:c.1452+209del	ENSP00000498829.1:n.1452+209del
ENST00000651541.1:c.1155+209del	ENSP00000498795.1:n.1155+209del
ENST00000651658.1:n.1879+209del
ENST00000651723.1:c.*1535+209del	ENSP00000498237.1:n.*1535+209del
ENST00000652016.1:c.1452+209del	ENSP00000498267.1:n.1452+209del
ENST00000652485.1:c.1452+209del	ENSP00000498973.1:n.1452+209del
ENST00000378823.7:c.1452+209del	ENSP00000368100.4:n.1452+209del
ENST00000423956.5:c.1452+209del	ENSP00000390971.1:n.1452+209del
ENST00000453394.5:c.1452+209del	ENSP00000400049.1:n.1452+209del
ENST00000533482.5:c.*1078+209del	ENSP00000431225.1:n.*1078+209del
NM_005732.3:c.1452+209del	NP_005723.2:n.1452+209del
NM_005732.4:c.1452+209del MANE Select	NP_005723.2:n.1452+209del