Canonical Allele Identifier: CA1139659056

Gene: RAD50

Linked Data

• ClinVar Variation Id: 958282
• ClinVar RCV Id: RCV001231421
• dbSNP Id: rs1750642516

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588746del , CM000667.2:g.132588746del	GRCh38
NC_000005.9:g.131924438del , CM000667.1:g.131924438del	GRCh37
NC_000005.8:g.131952337del	NCBI36
NG_021151.1:g.36823del
NG_021151.2:g.36770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1111del MANE Select	ENSP00000368100.4:p.Ile371PhefsTer8
ENST00000638452.2:c.814del	ENSP00000492349.2:p.Ile272PhefsTer8
ENST00000638504.1:n.797del
ENST00000638568.2:c.814del	ENSP00000491158.2:p.Ile272PhefsTer8
ENST00000639899.1:n.1630del
ENST00000640655.2:c.814del	ENSP00000491596.2:p.Ile272PhefsTer8
ENST00000651160.1:c.1111del	ENSP00000498829.1:p.Ile371PhefsTer8
ENST00000651541.1:c.814del	ENSP00000498795.1:p.Ile272PhefsTer8
ENST00000651658.1:n.1538del
ENST00000651723.1:c.*1194del	ENSP00000498237.1:n.*1194del
ENST00000652016.1:c.1111del	ENSP00000498267.1:p.Ile371PhefsTer8
ENST00000652485.1:c.1111del	ENSP00000498973.1:p.Ile371PhefsTer8
ENST00000378823.7:c.1111del	ENSP00000368100.4:p.Ile371PhefsTer8
ENST00000423956.5:c.1111del	ENSP00000390971.1:p.Ile371PhefsTer8
ENST00000453394.5:c.1111del	ENSP00000400049.1:p.Ile371PhefsTer8
ENST00000487596.1:n.677del
ENST00000533482.5:c.*737del	ENSP00000431225.1:n.*737del
NM_005732.3:c.1111del	NP_005723.2:p.Ile371PhefsTer8
NM_005732.4:c.1111del MANE Select	NP_005723.2:p.Ile371PhefsTer8