Canonical Allele Identifier: CA2580072656

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2119725
• ClinVar RCV Id: RCV003054799

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594930_132594933del , CM000667.2:g.132594930_132594933del	GRCh38
NC_000005.9:g.131930622_131930625del , CM000667.1:g.131930622_131930625del	GRCh37
NC_000005.8:g.131958521_131958524del	NCBI36
NG_021151.1:g.43007_43010del
NG_021151.2:g.42954_42957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1855_1858del MANE Select	ENSP00000368100.4:p.Glu619SerfsTer23
ENST00000638452.2:c.1558_1561del	ENSP00000492349.2:p.Glu520SerfsTer23
ENST00000638504.1:n.1480-174_1480-171del
ENST00000638568.2:c.1558_1561del	ENSP00000491158.2:p.Glu520SerfsTer23
ENST00000639899.1:n.2374_2377del
ENST00000640655.2:c.1558_1561del	ENSP00000491596.2:p.Glu520SerfsTer23
ENST00000651160.1:c.*16-174_*16-171del	ENSP00000498829.1:n.*16-174_*16-171del
ENST00000651658.1:n.2398_2401del
ENST00000651723.1:c.*1938_*1941del	ENSP00000498237.1:n.*1938_*1941del
ENST00000652016.1:c.*89-174_*89-171del	ENSP00000498267.1:n.*89-174_*89-171del
ENST00000652485.1:c.1888_1891del	ENSP00000498973.1:p.Glu630SerfsTer23
ENST00000378823.7:c.1855_1858del	ENSP00000368100.4:p.Glu619SerfsTer23
ENST00000423956.5:c.*41_*44del	ENSP00000390971.1:n.*41_*44del
ENST00000453394.5:c.1672_1675del	ENSP00000400049.1:p.Glu558SerfsTer23
ENST00000533482.5:c.*1481_*1484del	ENSP00000431225.1:n.*1481_*1484del
NM_005732.3:c.1855_1858del	NP_005723.2:p.Glu619SerfsTer23
NM_005732.4:c.1855_1858del MANE Select	NP_005723.2:p.Glu619SerfsTer23