Canonical Allele Identifier: CA163556
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 140787
ClinVar RCV Id: RCV000128943 RCV000588864 RCV002478382
dbSNP Id: rs2066742
ExAC: 5:131944964 C / CT
gnomAD v2: 5-131944964-C-CT
gnomAD v3: 5-132609272-C-CT
gnomAD v4: 5-132609272-C-CT
MyVariant Identifiers: chr5:g.131944970dupT (hg19) chr5:g.131944964_131944965insT (hg19) chr5:g.132609278dupT (hg38) chr5:g.132609272_132609273insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609278dup , CM000667.2:g.132609278dup GRCh38
NC_000005.9:g.131944970dup , CM000667.1:g.131944970dup GRCh37
NC_000005.8:g.131972869dup NCBI36
NG_021151.1:g.57355dup
NG_021151.2:g.57302dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2923-5dup MANE Select ENSP00000368100.4:n.2923-5dup
ENST00000638452.2:c.2626-5dup ENSP00000492349.2:n.2626-5dup
ENST00000638504.1:n.2531-5dup
ENST00000638568.2:c.2626-5dup ENSP00000491158.2:n.2626-5dup
ENST00000639899.1:n.3442-5dup
ENST00000640655.2:c.2626-5dup ENSP00000491596.2:n.2626-5dup
ENST00000651160.1:c.*1067-5dup ENSP00000498829.1:n.*1067-5dup
ENST00000651723.1:c.*3006-5dup ENSP00000498237.1:n.*3006-5dup
ENST00000378823.7:c.2923-5dup ENSP00000368100.4:n.2923-5dup
ENST00000423956.5:c.*1109-5dup ENSP00000390971.1:n.*1109-5dup
ENST00000533482.5:c.*2549-5dup ENSP00000431225.1:n.*2549-5dup
NM_005732.3:c.2923-5dup NP_005723.2:n.2923-5dup
NM_005732.4:c.2923-5dup MANE Select NP_005723.2:n.2923-5dup
Search 100 bp 5'
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