Canonical Allele Identifier: CA1583216679
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132556935_132556936delinsGC , CM000667.2:g.132556935_132556936delinsGC GRCh38
NC_000005.9:g.131892627_131892628delinsGC , CM000667.1:g.131892627_131892628delinsGC GRCh37
NC_000005.8:g.131920526_131920527delinsGC NCBI36
NG_021151.1:g.5012_5013delinsGC
NG_021151.2:g.4959_4960delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000638452.2:c.-168-2349_-168-2348delinsGC ENSP00000492349.2:n.-168-2349_-168-2348delinsGC
ENST00000638504.1:n.207-2349_207-2348delinsGC
ENST00000638568.2:c.-169+462_-169+463delinsGC ENSP00000491158.2:n.-169+462_-169+463delinsGC
ENST00000639899.1:n.290-2349_290-2348delinsGC
ENST00000640655.2:c.-168-2349_-168-2348delinsGC ENSP00000491596.2:n.-168-2349_-168-2348delinsGC
ENST00000651541.1:c.-243_-242delinsGC ENSP00000498795.1:n.-243_-242delinsGC
ENST00000416135.5:c.-169+462_-169+463delinsGC ENSP00000389515.1:n.-169+462_-169+463delinsGC
NM_005732.3:c.-390_-389delinsGC NP_005723.2:n.-390_-389delinsGC