Canonical Allele Identifier: CA2780926
Gene: RNF168 HGNC NCBI

Linked Data

ClinVar Variation Id: 2148010
ClinVar RCV Id: RCV003063180
dbSNP Id: rs771720993
ExAC: 3:196214347 CCTGT / C
gnomAD v2: 3-196214347-CCTGT-C
gnomAD v3: 3-196487476-CCTGT-C
gnomAD v4: 3-196487476-CCTGT-C
MyVariant Identifiers: chr3:g.196214348_196214351del (hg19) chr3:g.196487477_196487480del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.196487479_196487482del , CM000665.2:g.196487479_196487482del GRCh38
NC_000003.11:g.196214350_196214353del , CM000665.1:g.196214350_196214353del GRCh37
NC_000003.10:g.197698747_197698750del NCBI36
NG_023425.1:g.21289_21292del , LRG_185:g.21289_21292del

Transcript Alleles

HGVS Amino-acid change
ENST00000318037.3:c.477_480del MANE Select ENSP00000320898.3:p.Ala161LysfsTer11
ENST00000437070.1:c.*49_*52del ENSP00000396712.1:n.*49_*52del
NM_152617.3:c.477_480del , LRG_185t1:c.477_480del NP_689830.2:p.Ala161LysfsTer11
NM_152617.4:c.477_480del MANE Select NP_689830.2:p.Ala161LysfsTer11
Search 100 bp 5'
Search 100 bp 3'