Canonical Allele Identifier: CA1583229558

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609150_132609156delinsCATGGCT , CM000667.2:g.132609150_132609156delinsCATGGCT	GRCh38
NC_000005.9:g.131944842_131944848delinsCATGGCT , CM000667.1:g.131944842_131944848delinsCATGGCT	GRCh37
NC_000005.8:g.131972741_131972747delinsCATGGCT	NCBI36
NG_021151.1:g.57227_57233delinsCATGGCT
NG_021151.2:g.57174_57180delinsCATGGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2863_2869delinsCATGGCT MANE Select	ENSP00000368100.4:p.His955=
ENST00000638452.2:c.2566_2572delinsCATGGCT	ENSP00000492349.2:p.His856=
ENST00000638504.1:n.2471_2477delinsCATGGCT
ENST00000638568.2:c.2566_2572delinsCATGGCT	ENSP00000491158.2:p.His856=
ENST00000639899.1:n.3382_3388delinsCATGGCT
ENST00000640655.2:c.2566_2572delinsCATGGCT	ENSP00000491596.2:p.His856=
ENST00000651160.1:c.*1007_*1013delinsCATGGCT	ENSP00000498829.1:n.*1007_*1013delinsCATGGCT
ENST00000651723.1:c.*2946_*2952delinsCATGGCT	ENSP00000498237.1:n.*2946_*2952delinsCATGGCT
ENST00000378823.7:c.2863_2869delinsCATGGCT	ENSP00000368100.4:p.His955=
ENST00000423956.5:c.*1049_*1055delinsCATGGCT	ENSP00000390971.1:n.*1049_*1055delinsCATGGCT
ENST00000533482.5:c.*2489_*2495delinsCATGGCT	ENSP00000431225.1:n.*2489_*2495delinsCATGGCT
NM_005732.3:c.2863_2869delinsCATGGCT	NP_005723.2:p.His955=
NM_005732.4:c.2863_2869delinsCATGGCT MANE Select	NP_005723.2:p.His955=