Canonical Allele Identifier: CA2574769397
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17526882_17526883insCCCACATCCAGT , CM000673.2:g.17526882_17526883insCCCACATCCAGT GRCh38
NC_000011.9:g.17548429_17548430insCCCACATCCAGT , CM000673.1:g.17548429_17548430insCCCACATCCAGT GRCh37
NC_000011.8:g.17505005_17505006insCCCACATCCAGT NCBI36
NG_011883.1:g.22534_22535insACTGGATGTGGG
NG_011883.2:g.22534_22535insACTGGATGTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.522-73_522-72insACTGGATGTGGG MANE Select ENSP00000005226.7:n.522-73_522-72insACTGGATGTGGG
ENST00000318024.9:c.522-73_522-72insACTGGATGTGGG MANE Plus Clinical ENSP00000317018.4:n.522-73_522-72insACTGGATGTGGG
ENST00000005226.11:c.522-73_522-72insACTGGATGTGGG ENSP00000005226.7:n.522-73_522-72insACTGGATGTGGG
ENST00000318024.8:c.522-73_522-72insACTGGATGTGGG ENSP00000317018.4:n.522-73_522-72insACTGGATGTGGG
ENST00000526181.1:c.555-73_555-72insACTGGATGTGGG ENSP00000437128.1:n.555-73_555-72insACTGGATGTGGG
ENST00000526313.5:c.522-73_522-72insACTGGATGTGGG ENSP00000432236.1:n.522-73_522-72insACTGGATGTGGG
ENST00000527020.5:c.522-73_522-72insACTGGATGTGGG ENSP00000436934.1:n.522-73_522-72insACTGGATGTGGG
ENST00000527720.5:c.429-73_429-72insACTGGATGTGGG ENSP00000432944.1:n.429-73_429-72insACTGGATGTGGG
NM_001297764.1:c.522-73_522-72insACTGGATGTGGG NP_001284693.1:n.522-73_522-72insACTGGATGTGGG
NM_005709.3:c.522-73_522-72insACTGGATGTGGG NP_005700.2:n.522-73_522-72insACTGGATGTGGG
NM_153676.3:c.522-73_522-72insACTGGATGTGGG NP_710142.1:n.522-73_522-72insACTGGATGTGGG
NR_123738.1:n.631-73_631-72insACTGGATGTGGG
XM_011519831.1:c.522-73_522-72insACTGGATGTGGG XP_011518133.1:n.522-73_522-72insACTGGATGTGGG
XM_011519832.1:c.522-73_522-72insACTGGATGTGGG XP_011518134.1:n.522-73_522-72insACTGGATGTGGG
XM_011519833.1:c.522-73_522-72insACTGGATGTGGG XP_011518135.1:n.522-73_522-72insACTGGATGTGGG
XM_011519834.1:c.522-73_522-72insACTGGATGTGGG XP_011518136.1:n.522-73_522-72insACTGGATGTGGG
XR_930841.1:n.631-73_631-72insACTGGATGTGGG
XR_930842.1:n.631-73_631-72insACTGGATGTGGG
XM_011519832.3:c.522-73_522-72insACTGGATGTGGG XP_011518134.1:n.522-73_522-72insACTGGATGTGGG
XM_011519834.2:c.522-73_522-72insACTGGATGTGGG XP_011518136.1:n.522-73_522-72insACTGGATGTGGG
XM_017017072.1:c.522-73_522-72insACTGGATGTGGG XP_016872561.1:n.522-73_522-72insACTGGATGTGGG
XM_017017073.1:c.522-73_522-72insACTGGATGTGGG XP_016872562.1:n.522-73_522-72insACTGGATGTGGG
XM_017017074.1:c.522-73_522-72insACTGGATGTGGG XP_016872563.1:n.522-73_522-72insACTGGATGTGGG
XM_017017075.1:c.522-73_522-72insACTGGATGTGGG XP_016872564.1:n.522-73_522-72insACTGGATGTGGG
XR_001747717.2:n.631-73_631-72insACTGGATGTGGG
NM_153676.4:c.522-73_522-72insACTGGATGTGGG MANE Select NP_710142.1:n.522-73_522-72insACTGGATGTGGG
NM_001297764.2:c.522-73_522-72insACTGGATGTGGG NP_001284693.1:n.522-73_522-72insACTGGATGTGGG
NM_005709.4:c.522-73_522-72insACTGGATGTGGG MANE Plus Clinical NP_005700.2:n.522-73_522-72insACTGGATGTGGG
NR_123738.2:n.631-73_631-72insACTGGATGTGGG