Canonical Allele Identifier: CA16611829

Gene: RAD50

Linked Data

• ClinVar Variation Id: 414948
• ClinVar RCV Id: RCV001438972
• dbSNP Id: rs1060504394
• MyVariant Identifiers: chr5:g.131930553del (hg19) ; chr5:g.132594861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594861del , CM000667.2:g.132594861del	GRCh38
NC_000005.9:g.131930553del , CM000667.1:g.131930553del	GRCh37
NC_000005.8:g.131958452del	NCBI36
NG_021151.1:g.42938del
NG_021151.2:g.42885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1794-8del MANE Select	ENSP00000368100.4:n.1794-8del
ENST00000638452.2:c.1497-8del	ENSP00000492349.2:n.1497-8del
ENST00000638504.1:n.1480-243del
ENST00000638568.2:c.1497-8del	ENSP00000491158.2:n.1497-8del
ENST00000639899.1:n.2313-8del
ENST00000640655.2:c.1497-8del	ENSP00000491596.2:n.1497-8del
ENST00000651160.1:c.*16-243del	ENSP00000498829.1:n.*16-243del
ENST00000651658.1:n.2337-8del
ENST00000651723.1:c.*1877-8del	ENSP00000498237.1:n.*1877-8del
ENST00000652016.1:c.*88+184del	ENSP00000498267.1:n.*88+184del
ENST00000652485.1:c.1827-8del	ENSP00000498973.1:n.1827-8del
ENST00000378823.7:c.1794-8del	ENSP00000368100.4:n.1794-8del
ENST00000423956.5:c.1636-8del	ENSP00000390971.1:n.1636-8del
ENST00000453394.5:c.1611-8del	ENSP00000400049.1:n.1611-8del
ENST00000533482.5:c.*1420-8del	ENSP00000431225.1:n.*1420-8del
NM_005732.3:c.1794-8del	NP_005723.2:n.1794-8del
NM_005732.4:c.1794-8del MANE Select	NP_005723.2:n.1794-8del