Canonical Allele Identifier: CA2695201102
Community Standard Title: NM_153676.4(USH1C):c.1094_1101dup (p.Glu368ArgfsTer?)
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17520979_17520986dup , CM000673.2:g.17520979_17520986dup GRCh38
NC_000011.9:g.17542526_17542533dup , CM000673.1:g.17542526_17542533dup GRCh37
NC_000011.8:g.17499102_17499109dup NCBI36
NG_011883.1:g.28431_28438dup
NG_011883.2:g.28431_28438dup

Transcript Alleles

HGVS Amino-acid Change
NM_153676.4:c.1094_1101dup MANE Select NP_710142.1:p.Glu368ArgfsTer?
ENST00000005226.12:c.1094_1101dup MANE Select ENSP00000005226.7:p.Glu368ArgfsTer?
NM_005709.4:c.1094_1101dup MANE Plus Clinical NP_005700.2:p.Glu368ArgfsTer?
ENST00000318024.9:c.1094_1101dup MANE Plus Clinical ENSP00000317018.4:p.Glu368ArgfsTer?
NM_001297764.1:c.1037_1044dup NP_001284693.1:p.Glu349ArgfsTer?
NM_001297764.2:c.1037_1044dup NP_001284693.1:p.Glu349ArgfsTer?
NM_005709.3:c.1094_1101dup NP_005700.2:p.Glu368ArgfsTer?
NM_153676.3:c.1094_1101dup NP_710142.1:p.Glu368ArgfsTer?
NR_123738.1:n.1203_1210dup
NR_123738.2:n.1203_1210dup
ENST00000005226.11:c.1094_1101dup ENSP00000005226.7:p.Glu368ArgfsTer?
ENST00000318024.8:c.1094_1101dup ENSP00000317018.4:p.Glu368ArgfsTer?
ENST00000526313.5:c.1094_1101dup ENSP00000432236.1:p.Glu368ArgfsTer?
ENST00000527020.5:c.1037_1044dup ENSP00000436934.1:p.Glu349ArgfsTer?
ENST00000527720.5:c.1001_1008dup ENSP00000432944.1:p.Glu337ArgfsTer?
XM_011519831.1:c.1094_1101dup XP_011518133.1:p.Glu368ArgfsTer?
XM_011519832.1:c.1094_1101dup XP_011518134.1:p.Glu368ArgfsTer?
XM_011519832.3:c.1094_1101dup XP_011518134.1:p.Glu368ArgfsTer?
XM_011519833.1:c.1094_1101dup XP_011518135.1:p.Glu368ArgfsTer?
XM_011519834.1:c.1094_1101dup XP_011518136.1:p.Glu368ArgfsTer?
XM_011519834.2:c.1094_1101dup XP_011518136.1:p.Glu368ArgfsTer?
XM_017017072.1:c.1094_1101dup XP_016872561.1:p.Glu368ArgfsTer?
XM_017017073.1:c.1037_1044dup XP_016872562.1:p.Glu349ArgfsTer?
XM_017017074.1:c.1094_1101dup XP_016872563.1:p.Glu368ArgfsTer?
XM_017017075.1:c.1094_1101dup XP_016872564.1:p.Glu368ArgfsTer?
XR_001747717.2:n.1203_1210dup
XR_930841.1:n.1203_1210dup
XR_930842.1:n.1203_1210dup