Canonical Allele Identifier: CA549261302
Gene: RNF168 HGNC NCBI

Linked Data

dbSNP Id: rs1221019741
gnomAD v2: 3-196214391-ATG-A
gnomAD v3: 3-196487520-ATG-A
gnomAD v4: 3-196487520-ATG-A
MyVariant Identifiers: chr3:g.196214392_196214393del (hg19) chr3:g.196487521_196487522del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.196487522_196487523del , CM000665.2:g.196487522_196487523del GRCh38
NC_000003.11:g.196214393_196214394del , CM000665.1:g.196214393_196214394del GRCh37
NC_000003.10:g.197698790_197698791del NCBI36
NG_023425.1:g.21247_21248del , LRG_185:g.21247_21248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318037.3:c.435_436del MANE Select ENSP00000320898.3:p.Ile146ThrfsTer29
ENST00000437070.1:c.*7_*8del ENSP00000396712.1:n.*7_*8del
NM_152617.3:c.435_436del , LRG_185t1:c.435_436del NP_689830.2:p.Ile146ThrfsTer29
NM_152617.4:c.435_436del MANE Select NP_689830.2:p.Ile146ThrfsTer29
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