Canonical Allele Identifier: CA212754
Gene: RNF135 HGNC NCBI

Linked Data

ClinVar Variation Id: 976
ClinVar RCV Id: RCV000001027
dbSNP Id: rs724159977
MyVariant Identifiers: chr17:g.29324322del (hg19) chr17:g.30997304del (hg38)
PubMed: PMID:17632510
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30997304del , CM000679.2:g.30997304del GRCh38
NC_000017.10:g.29324322del , CM000679.1:g.29324322del GRCh37
NC_000017.9:g.26348448del NCBI36
NG_011701.1:g.31367del

Transcript Alleles

HGVS Amino-acid change
ENST00000328381.10:c.742del MANE Select ENSP00000328340.5:p.Leu248SerfsTer18
ENST00000324689.8:c.579del ENSP00000323693.4:p.Ser194GlnfsTer16
ENST00000328381.9:c.742del ENSP00000328340.5:p.Leu248SerfsTer18
ENST00000434242.2:c.158del
ENST00000443677.6:c.435del ENSP00000411965.2:p.Ser146GlnfsTer16
ENST00000535306.6:c.807del ENSP00000440470.2:p.Ser270GlnfsTer16
NM_001184992.1:c.807del NP_001171921.1:p.Ser270GlnfsTer16
NM_032322.3:c.742del NP_115698.3:p.Leu248SerfsTer18
NM_197939.1:c.579del NP_922921.1:p.Ser194GlnfsTer16
XM_005258043.3:c.199del XP_005258100.1:p.Leu67SerfsTer18
XM_006722138.2:c.421del XP_006722201.1:p.Leu141SerfsTer18
XM_017025223.1:c.199del XP_016880712.1:p.Leu67SerfsTer18
XM_024451000.1:c.199del XP_024306768.1:p.Leu67SerfsTer18
XM_024451001.1:c.199del XP_024306769.1:p.Leu67SerfsTer18
XR_002958076.1:n.869del
XR_002958077.1:n.804del
XR_002958078.1:n.641del
NM_032322.4:c.742del MANE Select NP_115698.3:p.Leu248SerfsTer18
NM_001184992.2:c.807del NP_001171921.1:p.Ser270GlnfsTer16
NM_197939.2:c.579del NP_922921.1:p.Ser194GlnfsTer16
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