Canonical Allele Identifier: CA2612676670
Gene: USH1C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACTGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC , CM000673.2:g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACTGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC GRCh38
NG_011883.2:g.22304_22305insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG MANE Select ENSP00000005226.7:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGG...
ENST00000318024.9:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG MANE Plus Clinical ENSP00000317018.4:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGG...
ENST00000005226.11:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000005226.7:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGG...
ENST00000318024.8:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000317018.4:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGG...
ENST00000526181.1:c.530-73_530-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000437128.1:n.530-73_530-72insGCAGTACTCCATGACAGTGGGAGGG...
ENST00000526313.5:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000432236.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGG...
ENST00000527020.5:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000436934.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGG...
ENST00000527720.5:c.404-73_404-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000432944.1:n.404-73_404-72insGCAGTACTCCATGACAGTGGGAGGG...
NM_001297764.1:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG NP_001284693.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
NM_005709.3:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG NP_005700.2:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAG...
NM_153676.3:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG NP_710142.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAG...
NR_123738.1:n.606-73_606-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG
XM_011519831.1:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518133.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
XM_011519832.1:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518134.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
XM_011519833.1:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518135.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
XM_011519834.1:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518136.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
XR_930841.1:n.606-73_606-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG
XR_930842.1:n.606-73_606-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG
XM_011519832.3:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518134.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
XM_011519834.2:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518136.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
XM_017017072.1:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_016872561.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
XM_017017073.1:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_016872562.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
XM_017017074.1:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_016872563.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
XM_017017075.1:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_016872564.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
XR_001747717.2:n.606-73_606-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG
NM_153676.4:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG MANE Select NP_710142.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAG...
NM_001297764.2:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG NP_001284693.1:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGG...
NM_005709.4:c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG MANE Plus Clinical NP_005700.2:n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAG...
NR_123738.2:n.606-73_606-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG