Canonical Allele Identifier: CA1583238139

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588805_132588809delinsAAGAC , CM000667.2:g.132588805_132588809delinsAAGAC	GRCh38
NC_000005.9:g.131924497_131924501delinsAAGAC , CM000667.1:g.131924497_131924501delinsAAGAC	GRCh37
NC_000005.8:g.131952396_131952400delinsAAGAC	NCBI36
NG_021151.1:g.36882_36886delinsAAGAC
NG_021151.2:g.36829_36833delinsAAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1170_1174delinsAAGAC MANE Select	ENSP00000368100.4:p.Glu390=
ENST00000638452.2:c.873_877delinsAAGAC	ENSP00000492349.2:p.Glu291=
ENST00000638504.1:n.856_860delinsAAGAC
ENST00000638568.2:c.873_877delinsAAGAC	ENSP00000491158.2:p.Glu291=
ENST00000639899.1:n.1689_1693delinsAAGAC
ENST00000640655.2:c.873_877delinsAAGAC	ENSP00000491596.2:p.Glu291=
ENST00000651160.1:c.1170_1174delinsAAGAC	ENSP00000498829.1:p.Glu390=
ENST00000651541.1:c.873_877delinsAAGAC	ENSP00000498795.1:p.Glu291=
ENST00000651658.1:n.1597_1601delinsAAGAC
ENST00000651723.1:c.*1253_*1257delinsAAGAC	ENSP00000498237.1:n.*1253_*1257delinsAAGAC
ENST00000652016.1:c.1170_1174delinsAAGAC	ENSP00000498267.1:p.Glu390=
ENST00000652485.1:c.1170_1174delinsAAGAC	ENSP00000498973.1:p.Glu390=
ENST00000378823.7:c.1170_1174delinsAAGAC	ENSP00000368100.4:p.Glu390=
ENST00000423956.5:c.1170_1174delinsAAGAC	ENSP00000390971.1:p.Glu390=
ENST00000453394.5:c.1170_1174delinsAAGAC	ENSP00000400049.1:p.Glu390=
ENST00000533482.5:c.*796_*800delinsAAGAC	ENSP00000431225.1:n.*796_*800delinsAAGAC
NM_005732.3:c.1170_1174delinsAAGAC	NP_005723.2:p.Glu390=
NM_005732.4:c.1170_1174delinsAAGAC MANE Select	NP_005723.2:p.Glu390=