Canonical Allele Identifier: CA1583246378

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132605018_132605019delinsGT , CM000667.2:g.132605018_132605019delinsGT	GRCh38
NC_000005.9:g.131940710_131940711delinsGT , CM000667.1:g.131940710_131940711delinsGT	GRCh37
NC_000005.8:g.131968609_131968610delinsGT	NCBI36
NG_021151.1:g.53095_53096delinsGT
NG_021151.2:g.53042_53043delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2718+19_2718+20delinsGT MANE Select	ENSP00000368100.4:n.2718+19_2718+20delinsGT
ENST00000638452.2:c.2421+19_2421+20delinsGT	ENSP00000492349.2:n.2421+19_2421+20delinsGT
ENST00000638504.1:n.2326+19_2326+20delinsGT
ENST00000638568.2:c.2421+19_2421+20delinsGT	ENSP00000491158.2:n.2421+19_2421+20delinsGT
ENST00000639899.1:n.3237+19_3237+20delinsGT
ENST00000640655.2:c.2421+19_2421+20delinsGT	ENSP00000491596.2:n.2421+19_2421+20delinsGT
ENST00000651160.1:c.*862+19_*862+20delinsGT	ENSP00000498829.1:n.*862+19_*862+20delinsGT
ENST00000651723.1:c.*2801+19_*2801+20delinsGT	ENSP00000498237.1:n.*2801+19_*2801+20delinsGT
ENST00000652016.1:c.*935+19_*935+20delinsGT	ENSP00000498267.1:n.*935+19_*935+20delinsGT
ENST00000378823.7:c.2718+19_2718+20delinsGT	ENSP00000368100.4:n.2718+19_2718+20delinsGT
ENST00000423956.5:c.*904+19_*904+20delinsGT	ENSP00000390971.1:n.*904+19_*904+20delinsGT
ENST00000533482.5:c.*2344+19_*2344+20delinsGT	ENSP00000431225.1:n.*2344+19_*2344+20delinsGT
NM_005732.3:c.2718+19_2718+20delinsGT	NP_005723.2:n.2718+19_2718+20delinsGT
NM_005732.4:c.2718+19_2718+20delinsGT MANE Select	NP_005723.2:n.2718+19_2718+20delinsGT