Canonical Allele Identifier: CA2675215448
Gene: RAD50 HGNC NCBI

Linked Data

gnomAD v4: 5-132556935-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132556935G>A , CM000667.2:g.132556935G>A GRCh38
NC_000005.9:g.131892627G>A , CM000667.1:g.131892627G>A GRCh37
NC_000005.8:g.131920526G>A NCBI36
NG_021151.1:g.5012G>A
NG_021151.2:g.4959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000638452.2:c.-168-2349G>A ENSP00000492349.2:n.-168-2349G>A
ENST00000638504.1:n.207-2349G>A
ENST00000638568.2:c.-169+462G>A ENSP00000491158.2:n.-169+462G>A
ENST00000639899.1:n.290-2349G>A
ENST00000640655.2:c.-168-2349G>A ENSP00000491596.2:n.-168-2349G>A
ENST00000651541.1:c.-243G>A ENSP00000498795.1:n.-243G>A
ENST00000416135.5:c.-169+462G>A ENSP00000389515.1:n.-169+462G>A
NM_005732.3:c.-390G>A NP_005723.2:n.-390G>A
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