Canonical Allele Identifier: CA2675215719
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132557124_132557125del , CM000667.2:g.132557124_132557125del GRCh38
NC_000005.9:g.131892816_131892817del , CM000667.1:g.131892816_131892817del GRCh37
NC_000005.8:g.131920715_131920716del NCBI36
NG_021151.1:g.5201_5202del
NG_021151.2:g.5148_5149del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.-201_-200del MANE Select ENSP00000368100.4:n.-201_-200del
ENST00000638452.2:c.-168-2160_-168-2159del ENSP00000492349.2:n.-168-2160_-168-2159del
ENST00000638504.1:n.207-2160_207-2159del
ENST00000638568.2:c.-169+651_-169+652del ENSP00000491158.2:n.-169+651_-169+652del
ENST00000639899.1:n.290-2160_290-2159del
ENST00000640655.2:c.-168-2160_-168-2159del ENSP00000491596.2:n.-168-2160_-168-2159del
ENST00000651160.1:c.-201_-200del ENSP00000498829.1:n.-201_-200del
ENST00000651541.1:c.-169+115_-169+116del ENSP00000498795.1:n.-169+115_-169+116del
ENST00000652016.1:c.-201_-200del ENSP00000498267.1:n.-201_-200del
ENST00000652485.1:c.-201_-200del ENSP00000498973.1:n.-201_-200del
ENST00000378823.7:c.-201_-200del ENSP00000368100.4:n.-201_-200del
ENST00000416135.5:c.-169+651_-169+652del ENSP00000389515.1:n.-169+651_-169+652del
ENST00000533482.5:c.-201_-200del ENSP00000431225.1:n.-201_-200del
NM_005732.3:c.-201_-200del NP_005723.2:n.-201_-200del
NM_005732.4:c.-201_-200del MANE Select NP_005723.2:n.-201_-200del