Canonical Allele Identifier: CA1583225278

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575915_132575916delinsAT , CM000667.2:g.132575915_132575916delinsAT	GRCh38
NC_000005.9:g.131911607_131911608delinsAT , CM000667.1:g.131911607_131911608delinsAT	GRCh37
NC_000005.8:g.131939506_131939507delinsAT	NCBI36
NG_021151.1:g.23992_23993delinsAT
NG_021151.2:g.23939_23940delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.352_353delinsAT MANE Select	ENSP00000368100.4:p.Ile118=
ENST00000638452.2:c.55_56delinsAT	ENSP00000492349.2:p.Ile19=
ENST00000638504.1:n.429_430delinsAT
ENST00000638568.2:c.55_56delinsAT	ENSP00000491158.2:p.Ile19=
ENST00000639899.1:n.512_513delinsAT
ENST00000640655.2:c.55_56delinsAT	ENSP00000491596.2:p.Ile19=
ENST00000651160.1:c.352_353delinsAT	ENSP00000498829.1:p.Ile118=
ENST00000651541.1:c.55_56delinsAT	ENSP00000498795.1:p.Ile19=
ENST00000651658.1:n.420_421delinsAT
ENST00000651723.1:c.*448+52_*448+53delinsAT	ENSP00000498237.1:n.*448+52_*448+53delinsAT
ENST00000652016.1:c.352_353delinsAT	ENSP00000498267.1:p.Ile118=
ENST00000652485.1:c.352_353delinsAT	ENSP00000498973.1:p.Ile118=
ENST00000378823.7:c.352_353delinsAT	ENSP00000368100.4:p.Ile118=
ENST00000416135.5:c.55_56delinsAT	ENSP00000389515.1:p.Ile19=
ENST00000423956.5:c.352_353delinsAT	ENSP00000390971.1:p.Ile118=
ENST00000453394.5:c.352_353delinsAT	ENSP00000400049.1:p.Ile118=
ENST00000533482.5:c.300+52_300+53delinsAT	ENSP00000431225.1:n.300+52_300+53delinsAT
NM_005732.3:c.352_353delinsAT	NP_005723.2:p.Ile118=
NM_005732.4:c.352_353delinsAT MANE Select	NP_005723.2:p.Ile118=