Canonical Allele Identifier: CA8485335

Gene: RNF135

Linked Data

• dbSNP Id: rs776887017
• ExAC: 17:29325687 C / CCATCCAACCTTTAACTTGAAGAGCCTTTCCTG
• gnomAD v2: 17-29325687-C-CCATCCAACCTTTAACTTGAAGAGCCTTTCCTG
• gnomAD v4: 17-30998669-C-CCATCCAACCTTTAACTTGAAGAGCCTTTCCTG
• MyVariant Identifiers: chr17:g.29325687_29325688insCATCCAACCTTTAACTTGAAGAGCCTTTCCTG (hg19) ; chr17:g.30998669_30998670insCATCCAACCTTTAACTTGAAGAGCCTTTCCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998672_30998703dup , CM000679.2:g.30998672_30998703dup	GRCh38
NC_000017.10:g.29325690_29325721dup , CM000679.1:g.29325690_29325721dup	GRCh37
NC_000017.9:g.26349816_26349847dup	NCBI36
NG_011701.1:g.32735_32766dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328381.10:c.780_811dup MANE Select	ENSP00000328340.5:p.Ser271IlefsTer6
ENST00000324689.8:c.617_*15dup	ENSP00000323693.4:n.617_*15dup
ENST00000328381.9:c.780_811dup	ENSP00000328340.5:p.Ser271IlefsTer6
ENST00000443677.6:c.473_*15dup	ENSP00000411965.2:n.473_*15dup
ENST00000535306.6:c.845_*15dup	ENSP00000440470.2:n.845_*15dup
NM_001184992.1:c.845_*15dup	NP_001171921.1:n.845_*15dup
NM_032322.3:c.780_811dup	NP_115698.3:p.Ser271IlefsTer6
NM_197939.1:c.617_*15dup	NP_922921.1:n.617_*15dup
XM_005258043.3:c.237_268dup	XP_005258100.1:p.Ser90IlefsTer6
XM_006722138.2:c.459_490dup	XP_006722201.1:p.Ser164IlefsTer6
XM_017025223.1:c.237_268dup	XP_016880712.1:p.Ser90IlefsTer6
XM_024451000.1:c.237_268dup	XP_024306768.1:p.Ser90IlefsTer6
XM_024451001.1:c.237_268dup	XP_024306769.1:p.Ser90IlefsTer6
XR_002958076.1:n.1113_1144dup
XR_002958077.1:n.1048_1079dup
XR_002958078.1:n.885_916dup
NM_032322.4:c.780_811dup MANE Select	NP_115698.3:p.Ser271IlefsTer6
NM_001184992.2:c.845_*15dup	NP_001171921.1:n.845_*15dup
NM_197939.2:c.617_*15dup	NP_922921.1:n.617_*15dup