Canonical Allele Identifier: CA2675215589
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132557019_132557020del , CM000667.2:g.132557019_132557020del GRCh38
NC_000005.9:g.131892711_131892712del , CM000667.1:g.131892711_131892712del GRCh37
NC_000005.8:g.131920610_131920611del NCBI36
NG_021151.1:g.5096_5097del
NG_021151.2:g.5043_5044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.-306_-305del MANE Select ENSP00000368100.4:n.-306_-305del
ENST00000638452.2:c.-168-2265_-168-2264del ENSP00000492349.2:n.-168-2265_-168-2264del
ENST00000638504.1:n.207-2265_207-2264del
ENST00000638568.2:c.-169+546_-169+547del ENSP00000491158.2:n.-169+546_-169+547del
ENST00000639899.1:n.290-2265_290-2264del
ENST00000640655.2:c.-168-2265_-168-2264del ENSP00000491596.2:n.-168-2265_-168-2264del
ENST00000651160.1:c.-306_-305del ENSP00000498829.1:n.-306_-305del
ENST00000651541.1:c.-169+10_-169+11del ENSP00000498795.1:n.-169+10_-169+11del
ENST00000652016.1:c.-306_-305del ENSP00000498267.1:n.-306_-305del
ENST00000652485.1:c.-306_-305del ENSP00000498973.1:n.-306_-305del
ENST00000378823.7:c.-306_-305del ENSP00000368100.4:n.-306_-305del
ENST00000416135.5:c.-169+546_-169+547del ENSP00000389515.1:n.-169+546_-169+547del
ENST00000533482.5:c.-306_-305del ENSP00000431225.1:n.-306_-305del
NM_005732.3:c.-306_-305del NP_005723.2:n.-306_-305del
NM_005732.4:c.-306_-305del MANE Select NP_005723.2:n.-306_-305del