Canonical Allele Identifier: CA1583239099

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589671_132589676delinsTAGATG , CM000667.2:g.132589671_132589676delinsTAGATG	GRCh38
NC_000005.9:g.131925363_131925368delinsTAGATG , CM000667.1:g.131925363_131925368delinsTAGATG	GRCh37
NC_000005.8:g.131953262_131953267delinsTAGATG	NCBI36
NG_021151.1:g.37748_37753delinsTAGATG
NG_021151.2:g.37695_37700delinsTAGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1286_1291delinsTAGATG MANE Select	ENSP00000368100.4:p.Ile429=
ENST00000638452.2:c.989_994delinsTAGATG	ENSP00000492349.2:p.Ile330=
ENST00000638504.1:n.972_977delinsTAGATG
ENST00000638568.2:c.989_994delinsTAGATG	ENSP00000491158.2:p.Ile330=
ENST00000639899.1:n.1805_1810delinsTAGATG
ENST00000640655.2:c.989_994delinsTAGATG	ENSP00000491596.2:p.Ile330=
ENST00000651160.1:c.1286_1291delinsTAGATG	ENSP00000498829.1:p.Ile429=
ENST00000651541.1:c.989_994delinsTAGATG	ENSP00000498795.1:p.Ile330=
ENST00000651658.1:n.1713_1718delinsTAGATG
ENST00000651723.1:c.*1369_*1374delinsTAGATG	ENSP00000498237.1:n.*1369_*1374delinsTAGATG
ENST00000652016.1:c.1286_1291delinsTAGATG	ENSP00000498267.1:p.Ile429=
ENST00000652485.1:c.1286_1291delinsTAGATG	ENSP00000498973.1:p.Ile429=
ENST00000378823.7:c.1286_1291delinsTAGATG	ENSP00000368100.4:p.Ile429=
ENST00000423956.5:c.1286_1291delinsTAGATG	ENSP00000390971.1:p.Ile429=
ENST00000453394.5:c.1286_1291delinsTAGATG	ENSP00000400049.1:p.Ile429=
ENST00000533482.5:c.*912_*917delinsTAGATG	ENSP00000431225.1:n.*912_*917delinsTAGATG
NM_005732.3:c.1286_1291delinsTAGATG	NP_005723.2:p.Ile429=
NM_005732.4:c.1286_1291delinsTAGATG MANE Select	NP_005723.2:p.Ile429=