Canonical Allele Identifier: CA2675215570
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132557006_132557009del , CM000667.2:g.132557006_132557009del GRCh38
NC_000005.9:g.131892698_131892701del , CM000667.1:g.131892698_131892701del GRCh37
NC_000005.8:g.131920597_131920600del NCBI36
NG_021151.1:g.5083_5086del
NG_021151.2:g.5030_5033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.-319_-316del MANE Select ENSP00000368100.4:n.-319_-316del
ENST00000638452.2:c.-168-2278_-168-2275del ENSP00000492349.2:n.-168-2278_-168-2275del
ENST00000638504.1:n.207-2278_207-2275del
ENST00000638568.2:c.-169+533_-169+536del ENSP00000491158.2:n.-169+533_-169+536del
ENST00000639899.1:n.290-2278_290-2275del
ENST00000640655.2:c.-168-2278_-168-2275del ENSP00000491596.2:n.-168-2278_-168-2275del
ENST00000651160.1:c.-319_-316del ENSP00000498829.1:n.-319_-316del
ENST00000651541.1:c.-172_-169del ENSP00000498795.1:n.-172_-169del
ENST00000652016.1:c.-319_-316del ENSP00000498267.1:n.-319_-316del
ENST00000652485.1:c.-319_-316del ENSP00000498973.1:n.-319_-316del
ENST00000378823.7:c.-319_-316del ENSP00000368100.4:n.-319_-316del
ENST00000416135.5:c.-169+533_-169+536del ENSP00000389515.1:n.-169+533_-169+536del
ENST00000533482.5:c.-319_-316del ENSP00000431225.1:n.-319_-316del
NM_005732.3:c.-319_-316del NP_005723.2:n.-319_-316del
NM_005732.4:c.-319_-316del MANE Select NP_005723.2:n.-319_-316del