Canonical Allele Identifier: CA1583246369
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132605004_132605005delinsGA , CM000667.2:g.132605004_132605005delinsGA GRCh38
NC_000005.9:g.131940696_131940697delinsGA , CM000667.1:g.131940696_131940697delinsGA GRCh37
NC_000005.8:g.131968595_131968596delinsGA NCBI36
NG_021151.1:g.53081_53082delinsGA
NG_021151.2:g.53028_53029delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2718+5_2718+6delinsGA MANE Select ENSP00000368100.4:n.2718+5_2718+6delinsGA
ENST00000638452.2:c.2421+5_2421+6delinsGA ENSP00000492349.2:n.2421+5_2421+6delinsGA
ENST00000638504.1:n.2326+5_2326+6delinsGA
ENST00000638568.2:c.2421+5_2421+6delinsGA ENSP00000491158.2:n.2421+5_2421+6delinsGA
ENST00000639899.1:n.3237+5_3237+6delinsGA
ENST00000640655.2:c.2421+5_2421+6delinsGA ENSP00000491596.2:n.2421+5_2421+6delinsGA
ENST00000651160.1:c.*862+5_*862+6delinsGA ENSP00000498829.1:n.*862+5_*862+6delinsGA
ENST00000651723.1:c.*2801+5_*2801+6delinsGA ENSP00000498237.1:n.*2801+5_*2801+6delinsGA
ENST00000652016.1:c.*935+5_*935+6delinsGA ENSP00000498267.1:n.*935+5_*935+6delinsGA
ENST00000378823.7:c.2718+5_2718+6delinsGA ENSP00000368100.4:n.2718+5_2718+6delinsGA
ENST00000423956.5:c.*904+5_*904+6delinsGA ENSP00000390971.1:n.*904+5_*904+6delinsGA
ENST00000533482.5:c.*2344+5_*2344+6delinsGA ENSP00000431225.1:n.*2344+5_*2344+6delinsGA
NM_005732.3:c.2718+5_2718+6delinsGA NP_005723.2:n.2718+5_2718+6delinsGA
NM_005732.4:c.2718+5_2718+6delinsGA MANE Select NP_005723.2:n.2718+5_2718+6delinsGA