Canonical Allele Identifier: CA8485346

Gene: RNF135

Linked Data

• dbSNP Id: rs773494942
• ExAC: 17:29325734 C / CTGA
• gnomAD v2: 17-29325734-C-CTGA
• MyVariant Identifiers: chr17:g.29325734_29325735insTGA (hg19) ; chr17:g.30998716_30998717insTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998716_30998717insTGA , CM000679.2:g.30998716_30998717insTGA	GRCh38
NC_000017.10:g.29325734_29325735insTGA , CM000679.1:g.29325734_29325735insTGA	GRCh37
NC_000017.9:g.26349860_26349861insTGA	NCBI36
NG_011701.1:g.32779_32780insTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328381.10:c.824_825insTGA MANE Select	ENSP00000328340.5:p.Ser275_Lys276insAsp
ENST00000324689.8:c.*28_*29insTGA	ENSP00000323693.4:n.*28_*29insTGA
ENST00000328381.9:c.824_825insTGA	ENSP00000328340.5:p.Ser275_Lys276insAsp
ENST00000443677.6:c.*28_*29insTGA	ENSP00000411965.2:n.*28_*29insTGA
ENST00000535306.6:c.*28_*29insTGA	ENSP00000440470.2:n.*28_*29insTGA
NM_001184992.1:c.*28_*29insTGA	NP_001171921.1:n.*28_*29insTGA
NM_032322.3:c.824_825insTGA	NP_115698.3:p.Ser275_Lys276insAsp
NM_197939.1:c.*28_*29insTGA	NP_922921.1:n.*28_*29insTGA
XM_005258043.3:c.281_282insTGA	XP_005258100.1:p.Ser94_Lys95insAsp
XM_006722138.2:c.503_504insTGA	XP_006722201.1:p.Ser168_Lys169insAsp
XM_017025223.1:c.281_282insTGA	XP_016880712.1:p.Ser94_Lys95insAsp
XM_024451000.1:c.281_282insTGA	XP_024306768.1:p.Ser94_Lys95insAsp
XM_024451001.1:c.281_282insTGA	XP_024306769.1:p.Ser94_Lys95insAsp
XR_002958076.1:n.1157_1158insTGA
XR_002958077.1:n.1092_1093insTGA
XR_002958078.1:n.929_930insTGA
NM_032322.4:c.824_825insTGA MANE Select	NP_115698.3:p.Ser275_Lys276insAsp
NM_001184992.2:c.*28_*29insTGA	NP_001171921.1:n.*28_*29insTGA
NM_197939.2:c.*28_*29insTGA	NP_922921.1:n.*28_*29insTGA