Canonical Allele Identifier: CA2675216855

Gene: RAD50

Linked Data

• gnomAD v4: 5-132588780-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588781del , CM000667.2:g.132588781del	GRCh38
NC_000005.9:g.131924473del , CM000667.1:g.131924473del	GRCh37
NC_000005.8:g.131952372del	NCBI36
NG_021151.1:g.36858del
NG_021151.2:g.36805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1146del MANE Select	ENSP00000368100.4:p.Phe383LeufsTer18
ENST00000638452.2:c.849del	ENSP00000492349.2:p.Phe284LeufsTer18
ENST00000638504.1:n.832del
ENST00000638568.2:c.849del	ENSP00000491158.2:p.Phe284LeufsTer18
ENST00000639899.1:n.1665del
ENST00000640655.2:c.849del	ENSP00000491596.2:p.Phe284LeufsTer18
ENST00000651160.1:c.1146del	ENSP00000498829.1:p.Phe383LeufsTer18
ENST00000651541.1:c.849del	ENSP00000498795.1:p.Phe284LeufsTer18
ENST00000651658.1:n.1573del
ENST00000651723.1:c.*1229del	ENSP00000498237.1:n.*1229del
ENST00000652016.1:c.1146del	ENSP00000498267.1:p.Phe383LeufsTer18
ENST00000652485.1:c.1146del	ENSP00000498973.1:p.Phe383LeufsTer18
ENST00000378823.7:c.1146del	ENSP00000368100.4:p.Phe383LeufsTer18
ENST00000423956.5:c.1146del	ENSP00000390971.1:p.Phe383LeufsTer18
ENST00000453394.5:c.1146del	ENSP00000400049.1:p.Phe383LeufsTer18
ENST00000487596.1:n.712del
ENST00000533482.5:c.*772del	ENSP00000431225.1:n.*772del
NM_005732.3:c.1146del	NP_005723.2:p.Phe383LeufsTer18
NM_005732.4:c.1146del MANE Select	NP_005723.2:p.Phe383LeufsTer18