Canonical Allele Identifier: CA16611752
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 408352
ClinVar RCV Id: RCV000472391
dbSNP Id: rs1064792948
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132579425_132579434delinsAA , CM000667.2:g.132579425_132579434delinsAA GRCh38
NC_000005.9:g.131915117_131915126delinsAA , CM000667.1:g.131915117_131915126delinsAA GRCh37
NC_000005.8:g.131943016_131943025delinsAA NCBI36
NG_021151.1:g.27502_27511delinsAA
NG_021151.2:g.27449_27458delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.474_483delinsAA MANE Select ENSP00000368100.4:p.His158GlnfsTer3
ENST00000638452.2:c.177_186delinsAA ENSP00000492349.2:p.His59GlnfsTer3
ENST00000638504.1:n.442+3497_442+3506delinsAA
ENST00000638568.2:c.177_186delinsAA ENSP00000491158.2:p.His59GlnfsTer3
ENST00000639899.1:n.634_643delinsAA
ENST00000640655.2:c.177_186delinsAA ENSP00000491596.2:p.His59GlnfsTer3
ENST00000651160.1:c.474_483delinsAA ENSP00000498829.1:p.His158GlnfsTer3
ENST00000651541.1:c.177_186delinsAA ENSP00000498795.1:p.His59GlnfsTer3
ENST00000651658.1:n.542_551delinsAA
ENST00000651723.1:c.*557_*566delinsAA ENSP00000498237.1:n.*557_*566delinsAA
ENST00000652016.1:c.474_483delinsAA ENSP00000498267.1:p.His158GlnfsTer3
ENST00000652485.1:c.474_483delinsAA ENSP00000498973.1:p.His158GlnfsTer3
ENST00000378823.7:c.474_483delinsAA ENSP00000368100.4:p.His158GlnfsTer3
ENST00000416135.5:c.177_186delinsAA ENSP00000389515.1:p.His59GlnfsTer3
ENST00000423956.5:c.474_483delinsAA ENSP00000390971.1:p.His158GlnfsTer3
ENST00000453394.5:c.474_483delinsAA ENSP00000400049.1:p.His158GlnfsTer3
ENST00000533482.5:c.*100_*109delinsAA ENSP00000431225.1:n.*100_*109delinsAA
NM_005732.3:c.474_483delinsAA NP_005723.2:p.His158GlnfsTer3
NM_005732.4:c.474_483delinsAA MANE Select NP_005723.2:p.His158GlnfsTer3
Search 100 bp 5'
Search 100 bp 3'