Canonical Allele Identifier: CA1583238353

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588872_132588876delinsCAACT , CM000667.2:g.132588872_132588876delinsCAACT	GRCh38
NC_000005.9:g.131924564_131924568delinsCAACT , CM000667.1:g.131924564_131924568delinsCAACT	GRCh37
NC_000005.8:g.131952463_131952467delinsCAACT	NCBI36
NG_021151.1:g.36949_36953delinsCAACT
NG_021151.2:g.36896_36900delinsCAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1237_1241delinsCAACT MANE Select	ENSP00000368100.4:p.Gln413=
ENST00000638452.2:c.940_944delinsCAACT	ENSP00000492349.2:p.Gln314=
ENST00000638504.1:n.923_927delinsCAACT
ENST00000638568.2:c.940_944delinsCAACT	ENSP00000491158.2:p.Gln314=
ENST00000639899.1:n.1756_1760delinsCAACT
ENST00000640655.2:c.940_944delinsCAACT	ENSP00000491596.2:p.Gln314=
ENST00000651160.1:c.1237_1241delinsCAACT	ENSP00000498829.1:p.Gln413=
ENST00000651541.1:c.940_944delinsCAACT	ENSP00000498795.1:p.Gln314=
ENST00000651658.1:n.1664_1668delinsCAACT
ENST00000651723.1:c.*1320_*1324delinsCAACT	ENSP00000498237.1:n.*1320_*1324delinsCAACT
ENST00000652016.1:c.1237_1241delinsCAACT	ENSP00000498267.1:p.Gln413=
ENST00000652485.1:c.1237_1241delinsCAACT	ENSP00000498973.1:p.Gln413=
ENST00000378823.7:c.1237_1241delinsCAACT	ENSP00000368100.4:p.Gln413=
ENST00000423956.5:c.1237_1241delinsCAACT	ENSP00000390971.1:p.Gln413=
ENST00000453394.5:c.1237_1241delinsCAACT	ENSP00000400049.1:p.Gln413=
ENST00000533482.5:c.*863_*867delinsCAACT	ENSP00000431225.1:n.*863_*867delinsCAACT
NM_005732.3:c.1237_1241delinsCAACT	NP_005723.2:p.Gln413=
NM_005732.4:c.1237_1241delinsCAACT MANE Select	NP_005723.2:p.Gln413=