Canonical Allele Identifier: CA1583241801

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594893_132594922delinsGAATAAAAATCATATAAATAATGAACTAAA , CM000667.2:g.132594893_132594922delinsGAATAAAAATCATATAAATAATGAACTAAA	GRCh38
NC_000005.9:g.131930585_131930614delinsGAATAAAAATCATATAAATAATGAACTAAA , CM000667.1:g.131930585_131930614delinsGAATAAAAATCATATAAATAATGAACTAAA	GRCh37
NC_000005.8:g.131958484_131958513delinsGAATAAAAATCATATAAATAATGAACTAAA	NCBI36
NG_021151.1:g.42970_42999delinsGAATAAAAATCATATAAATAATGAACTAAA
NG_021151.2:g.42917_42946delinsGAATAAAAATCATATAAATAATGAACTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1818_1847delinsGAATAAAAATCATATAAATAATGAACTAAA MANE Select	ENSP00000368100.4:p.Gln606=
ENST00000638452.2:c.1521_1550delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000492349.2:p.Gln507=
ENST00000638504.1:n.1480-211_1480-182delinsGAATAAAAATCATATAAATAATGAACTAAA
ENST00000638568.2:c.1521_1550delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000491158.2:p.Gln507=
ENST00000639899.1:n.2337_2366delinsGAATAAAAATCATATAAATAATGAACTAAA
ENST00000640655.2:c.1521_1550delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000491596.2:p.Gln507=
ENST00000651160.1:c.*16-211_*16-182delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000498829.1:n.*16-211_*16-182delinsGAATAAAAATCATATAAATA...
ENST00000651658.1:n.2361_2390delinsGAATAAAAATCATATAAATAATGAACTAAA
ENST00000651723.1:c.*1901_*1930delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000498237.1:n.*1901_*1930delinsGAATAAAAATCATATAAATAATGA...
ENST00000652016.1:c.*89-211_*89-182delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000498267.1:n.*89-211_*89-182delinsGAATAAAAATCATATAAATA...
ENST00000652485.1:c.1851_1880delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000498973.1:p.Gln617=
ENST00000378823.7:c.1818_1847delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000368100.4:p.Gln606=
ENST00000423956.5:c.*4_*33delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000390971.1:n.*4_*33delinsGAATAAAAATCATATAAATAATGAACTAA...
ENST00000453394.5:c.1635_1664delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000400049.1:p.Gln545=
ENST00000533482.5:c.*1444_*1473delinsGAATAAAAATCATATAAATAATGAACTAAA	ENSP00000431225.1:n.*1444_*1473delinsGAATAAAAATCATATAAATAATGA...
NM_005732.3:c.1818_1847delinsGAATAAAAATCATATAAATAATGAACTAAA	NP_005723.2:p.Gln606=
NM_005732.4:c.1818_1847delinsGAATAAAAATCATATAAATAATGAACTAAA MANE Select	NP_005723.2:p.Gln606=