Canonical Allele Identifier: CA2675218650

Gene: RAD50

Linked Data

• gnomAD v4: 5-132594903-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594904del , CM000667.2:g.132594904del	GRCh38
NC_000005.9:g.131930596del , CM000667.1:g.131930596del	GRCh37
NC_000005.8:g.131958495del	NCBI36
NG_021151.1:g.42981del
NG_021151.2:g.42928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1829del MANE Select	ENSP00000368100.4:p.His610LeufsTer2
ENST00000638452.2:c.1532del	ENSP00000492349.2:p.His511LeufsTer2
ENST00000638504.1:n.1480-200del
ENST00000638568.2:c.1532del	ENSP00000491158.2:p.His511LeufsTer2
ENST00000639899.1:n.2348del
ENST00000640655.2:c.1532del	ENSP00000491596.2:p.His511LeufsTer2
ENST00000651160.1:c.*16-200del	ENSP00000498829.1:n.*16-200del
ENST00000651658.1:n.2372del
ENST00000651723.1:c.*1912del	ENSP00000498237.1:n.*1912del
ENST00000652016.1:c.*89-200del	ENSP00000498267.1:n.*89-200del
ENST00000652485.1:c.1862del	ENSP00000498973.1:p.His621LeufsTer2
ENST00000378823.7:c.1829del	ENSP00000368100.4:p.His610LeufsTer2
ENST00000423956.5:c.*15del	ENSP00000390971.1:n.*15del
ENST00000453394.5:c.1646del	ENSP00000400049.1:p.His549LeufsTer2
ENST00000533482.5:c.*1455del	ENSP00000431225.1:n.*1455del
NM_005732.3:c.1829del	NP_005723.2:p.His610LeufsTer2
NM_005732.4:c.1829del MANE Select	NP_005723.2:p.His610LeufsTer2