Canonical Allele Identifier: CA1583216951

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557342_132557346delinsGATGA , CM000667.2:g.132557342_132557346delinsGATGA	GRCh38
NC_000005.9:g.131893034_131893038delinsGATGA , CM000667.1:g.131893034_131893038delinsGATGA	GRCh37
NC_000005.8:g.131920933_131920937delinsGATGA	NCBI36
NG_021151.1:g.5419_5423delinsGATGA
NG_021151.2:g.5366_5370delinsGATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.18_22delinsGATGA MANE Select	ENSP00000368100.4:p.Lys6=
ENST00000638452.2:c.-168-1942_-168-1938delinsGATGA	ENSP00000492349.2:n.-168-1942_-168-1938delinsGATGA
ENST00000638504.1:n.207-1942_207-1938delinsGATGA
ENST00000638568.2:c.-169+869_-169+873delinsGATGA	ENSP00000491158.2:n.-169+869_-169+873delinsGATGA
ENST00000639899.1:n.290-1942_290-1938delinsGATGA
ENST00000640655.2:c.-168-1942_-168-1938delinsGATGA	ENSP00000491596.2:n.-168-1942_-168-1938delinsGATGA
ENST00000651160.1:c.18_22delinsGATGA	ENSP00000498829.1:p.Lys6=
ENST00000651541.1:c.-169+333_-169+337delinsGATGA	ENSP00000498795.1:n.-169+333_-169+337delinsGATGA
ENST00000651658.1:n.86_90delinsGATGA
ENST00000651723.1:c.18_22delinsGATGA	ENSP00000498237.1:p.Lys6=
ENST00000652016.1:c.18_22delinsGATGA	ENSP00000498267.1:p.Lys6=
ENST00000652485.1:c.18_22delinsGATGA	ENSP00000498973.1:p.Lys6=
ENST00000378823.7:c.18_22delinsGATGA	ENSP00000368100.4:p.Lys6=
ENST00000416135.5:c.-169+869_-169+873delinsGATGA	ENSP00000389515.1:n.-169+869_-169+873delinsGATGA
ENST00000423956.5:c.18_22delinsGATGA	ENSP00000390971.1:p.Lys6=
ENST00000453394.5:c.18_22delinsGATGA	ENSP00000400049.1:p.Lys6=
ENST00000533482.5:c.18_22delinsGATGA	ENSP00000431225.1:p.Lys6=
NM_005732.3:c.18_22delinsGATGA	NP_005723.2:p.Lys6=
NM_005732.4:c.18_22delinsGATGA MANE Select	NP_005723.2:p.Lys6=