Canonical Allele Identifier: CA1955186960
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17527125_17527152delinsCCCTCCCTCCCTCCCACCGTCATGGAGT , CM000673.2:g.17527125_17527152delinsCCCTCCCTCCCTCCCACCGTCATGGAGT GRCh38
NC_000011.9:g.17548672_17548699delinsCCCTCCCTCCCTCCCACCGTCATGGAGT , CM000673.1:g.17548672_17548699delinsCCCTCCCTCCCTCCCACCGTCATGGAGT GRCh37
NC_000011.8:g.17505248_17505275delinsCCCTCCCTCCCTCCCACCGTCATGGAGT NCBI36
NG_011883.1:g.22265_22292delinsACTCCATGACGGTGGGAGGGAGGGAGGG
NG_011883.2:g.22265_22292delinsACTCCATGACGGTGGGAGGGAGGGAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG MANE Select ENSP00000005226.7:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAG...
ENST00000318024.9:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG MANE Plus Clinical ENSP00000317018.4:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAG...
ENST00000005226.11:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG ENSP00000005226.7:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAG...
ENST00000318024.8:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG ENSP00000317018.4:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAG...
ENST00000526181.1:c.529+71_530-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG ENSP00000437128.1:n.529+71_530-85delinsACTCCATGACGGTGGGAGGGAG...
ENST00000526313.5:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG ENSP00000432236.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAG...
ENST00000527020.5:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG ENSP00000436934.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAG...
ENST00000527720.5:c.403+71_404-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG ENSP00000432944.1:n.403+71_404-85delinsACTCCATGACGGTGGGAGGGAG...
NM_001297764.1:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG NP_001284693.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
NM_005709.3:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG NP_005700.2:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG...
NM_153676.3:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG NP_710142.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG...
NR_123738.1:n.605+71_606-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG
XM_011519831.1:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG XP_011518133.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
XM_011519832.1:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG XP_011518134.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
XM_011519833.1:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG XP_011518135.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
XM_011519834.1:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG XP_011518136.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
XR_930841.1:n.605+71_606-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG
XR_930842.1:n.605+71_606-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG
XM_011519832.3:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG XP_011518134.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
XM_011519834.2:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG XP_011518136.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
XM_017017072.1:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG XP_016872561.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
XM_017017073.1:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG XP_016872562.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
XM_017017074.1:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG XP_016872563.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
XM_017017075.1:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG XP_016872564.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
XR_001747717.2:n.605+71_606-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG
NM_153676.4:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG MANE Select NP_710142.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG...
NM_001297764.2:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG NP_001284693.1:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGA...
NM_005709.4:c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG MANE Plus Clinical NP_005700.2:n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG...
NR_123738.2:n.605+71_606-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG