Canonical Allele Identifier: CA562777883
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs1471651050
gnomAD v2: 5-131953745-AT-A
MyVariant Identifiers: chr5:g.131953746del (hg19) chr5:g.132618054del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618058del , CM000667.2:g.132618058del GRCh38
NC_000005.9:g.131953750del , CM000667.1:g.131953750del GRCh37
NC_000005.8:g.131981649del NCBI36
NG_021151.1:g.66135del
NG_021151.2:g.66082del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3165-12del MANE Select ENSP00000368100.4:n.3165-12del
ENST00000638452.2:c.2868-12del ENSP00000492349.2:n.2868-12del
ENST00000638504.1:n.2773-12del
ENST00000638568.2:c.2868-12del ENSP00000491158.2:n.2868-12del
ENST00000639899.1:n.3684-12del
ENST00000640655.2:c.2868-12del ENSP00000491596.2:n.2868-12del
ENST00000378823.7:c.3165-12del ENSP00000368100.4:n.3165-12del
ENST00000533482.5:c.*2791-12del ENSP00000431225.1:n.*2791-12del
NM_005732.3:c.3165-12del NP_005723.2:n.3165-12del
NM_005732.4:c.3165-12del MANE Select NP_005723.2:n.3165-12del
Search 100 bp 5'
Search 100 bp 3'