Canonical Allele Identifier: CA10578575
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 231436
ClinVar RCV Id: RCV000220659
dbSNP Id: rs876659158
MyVariant Identifiers: chr5:g.131940692_131940696del (hg19) chr5:g.132605000_132605004del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132605000_132605004del , CM000667.2:g.132605000_132605004del GRCh38
NC_000005.9:g.131940692_131940696del , CM000667.1:g.131940692_131940696del GRCh37
NC_000005.8:g.131968591_131968595del NCBI36
NG_021151.1:g.53077_53081del
NG_021151.2:g.53024_53028del

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2718+1_2718+5del
ENST00000638452.2:c.2421+1_2421+5del
ENST00000638504.1:n.2326+1_2326+5del
ENST00000638568.2:c.2421+1_2421+5del
ENST00000639899.1:n.3237+1_3237+5del
ENST00000640655.2:c.2421+1_2421+5del
ENST00000651160.1:c.*862+1_*862+5del
ENST00000651723.1:c.*2801+1_*2801+5del
ENST00000652016.1:c.*935+1_*935+5del
ENST00000378823.7:c.2718+1_2718+5del
ENST00000423956.5:c.*904+1_*904+5del
ENST00000533482.5:c.*2344+1_*2344+5del
NM_005732.3:c.2718+1_2718+5del
NM_005732.4:c.2718+1_2718+5del
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