Canonical Allele Identifier: CA1583238952

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589636_132589638delinsCTT , CM000667.2:g.132589636_132589638delinsCTT	GRCh38
NC_000005.9:g.131925328_131925330delinsCTT , CM000667.1:g.131925328_131925330delinsCTT	GRCh37
NC_000005.8:g.131953227_131953229delinsCTT	NCBI36
NG_021151.1:g.37713_37715delinsCTT
NG_021151.2:g.37660_37662delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1251_1253delinsCTT MANE Select	ENSP00000368100.4:p.Asp417=
ENST00000638452.2:c.954_956delinsCTT	ENSP00000492349.2:p.Asp318=
ENST00000638504.1:n.937_939delinsCTT
ENST00000638568.2:c.954_956delinsCTT	ENSP00000491158.2:p.Asp318=
ENST00000639899.1:n.1770_1772delinsCTT
ENST00000640655.2:c.954_956delinsCTT	ENSP00000491596.2:p.Asp318=
ENST00000651160.1:c.1251_1253delinsCTT	ENSP00000498829.1:p.Asp417=
ENST00000651541.1:c.954_956delinsCTT	ENSP00000498795.1:p.Asp318=
ENST00000651658.1:n.1678_1680delinsCTT
ENST00000651723.1:c.*1334_*1336delinsCTT	ENSP00000498237.1:n.*1334_*1336delinsCTT
ENST00000652016.1:c.1251_1253delinsCTT	ENSP00000498267.1:p.Asp417=
ENST00000652485.1:c.1251_1253delinsCTT	ENSP00000498973.1:p.Asp417=
ENST00000378823.7:c.1251_1253delinsCTT	ENSP00000368100.4:p.Asp417=
ENST00000423956.5:c.1251_1253delinsCTT	ENSP00000390971.1:p.Asp417=
ENST00000453394.5:c.1251_1253delinsCTT	ENSP00000400049.1:p.Asp417=
ENST00000533482.5:c.*877_*879delinsCTT	ENSP00000431225.1:n.*877_*879delinsCTT
NM_005732.3:c.1251_1253delinsCTT	NP_005723.2:p.Asp417=
NM_005732.4:c.1251_1253delinsCTT MANE Select	NP_005723.2:p.Asp417=