Canonical Allele Identifier: CA2578402582

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588814_132588815del , CM000667.2:g.132588814_132588815del	GRCh38
NC_000005.9:g.131924506_131924507del , CM000667.1:g.131924506_131924507del	GRCh37
NC_000005.8:g.131952405_131952406del	NCBI36
NG_021151.1:g.36891_36892del
NG_021151.2:g.36838_36839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1179_1180del MANE Select	ENSP00000368100.4:p.Asn395PhefsTer22
ENST00000638452.2:c.882_883del	ENSP00000492349.2:p.Asn296PhefsTer22
ENST00000638504.1:n.865_866del
ENST00000638568.2:c.882_883del	ENSP00000491158.2:p.Asn296PhefsTer22
ENST00000639899.1:n.1698_1699del
ENST00000640655.2:c.882_883del	ENSP00000491596.2:p.Asn296PhefsTer22
ENST00000651160.1:c.1179_1180del	ENSP00000498829.1:p.Asn395PhefsTer22
ENST00000651541.1:c.882_883del	ENSP00000498795.1:p.Asn296PhefsTer22
ENST00000651658.1:n.1606_1607del
ENST00000651723.1:c.*1262_*1263del	ENSP00000498237.1:n.*1262_*1263del
ENST00000652016.1:c.1179_1180del	ENSP00000498267.1:p.Asn395PhefsTer22
ENST00000652485.1:c.1179_1180del	ENSP00000498973.1:p.Asn395PhefsTer22
ENST00000378823.7:c.1179_1180del	ENSP00000368100.4:p.Asn395PhefsTer22
ENST00000423956.5:c.1179_1180del	ENSP00000390971.1:p.Asn395PhefsTer22
ENST00000453394.5:c.1179_1180del	ENSP00000400049.1:p.Asn395PhefsTer22
ENST00000533482.5:c.*805_*806del	ENSP00000431225.1:n.*805_*806del
NM_005732.3:c.1179_1180del	NP_005723.2:p.Asn395PhefsTer22
NM_005732.4:c.1179_1180del MANE Select	NP_005723.2:p.Asn395PhefsTer22