Canonical Allele Identifier: CA1081655506

Gene: RAD50

Linked Data

• dbSNP Id: rs1750380753
• gnomAD v3: 5-132575604-ATTAAT-A
• gnomAD v4: 5-132575604-ATTAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575606_132575610del , CM000667.2:g.132575606_132575610del	GRCh38
NC_000005.9:g.131911298_131911302del , CM000667.1:g.131911298_131911302del	GRCh37
NC_000005.8:g.131939197_131939201del	NCBI36
NG_021151.1:g.23683_23687del
NG_021151.2:g.23630_23634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.214-171_214-167del MANE Select	ENSP00000368100.4:n.214-171_214-167del
ENST00000638452.2:c.-84-171_-84-167del	ENSP00000492349.2:n.-84-171_-84-167del
ENST00000638504.1:n.291-171_291-167del
ENST00000638568.2:c.-84-171_-84-167del	ENSP00000491158.2:n.-84-171_-84-167del
ENST00000639899.1:n.374-171_374-167del
ENST00000640655.2:c.-84-171_-84-167del	ENSP00000491596.2:n.-84-171_-84-167del
ENST00000651160.1:c.214-171_214-167del	ENSP00000498829.1:n.214-171_214-167del
ENST00000651541.1:c.-84-171_-84-167del	ENSP00000498795.1:n.-84-171_-84-167del
ENST00000651658.1:n.282-171_282-167del
ENST00000651723.1:c.*362-171_*362-167del	ENSP00000498237.1:n.*362-171_*362-167del
ENST00000652016.1:c.214-171_214-167del	ENSP00000498267.1:n.214-171_214-167del
ENST00000652485.1:c.214-171_214-167del	ENSP00000498973.1:n.214-171_214-167del
ENST00000378823.7:c.214-171_214-167del	ENSP00000368100.4:n.214-171_214-167del
ENST00000416135.5:c.-84-171_-84-167del	ENSP00000389515.1:n.-84-171_-84-167del
ENST00000423956.5:c.214-171_214-167del	ENSP00000390971.1:n.214-171_214-167del
ENST00000453394.5:c.214-171_214-167del	ENSP00000400049.1:n.214-171_214-167del
ENST00000533482.5:c.214-171_214-167del	ENSP00000431225.1:n.214-171_214-167del
NM_005732.3:c.214-171_214-167del	NP_005723.2:n.214-171_214-167del
NM_005732.4:c.214-171_214-167del MANE Select	NP_005723.2:n.214-171_214-167del