Canonical Allele Identifier: CA918828311
Gene: USH1C HGNC NCBI

Linked Data

dbSNP Id: rs1565058257

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17527190_17527191insGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC , CM000673.2:g.17527190_17527191insGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC GRCh38
NG_011883.2:g.22259_22260insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG MANE Select ENSP00000005226.7:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAG...
ENST00000318024.9:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG MANE Plus Clinical ENSP00000317018.4:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAG...
ENST00000005226.11:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000005226.7:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAG...
ENST00000318024.8:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000317018.4:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAG...
ENST00000526181.1:c.529+65_529+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000437128.1:n.529+65_529+66insTCAGTACTCCGACGGTGGGAGGGAG...
ENST00000526313.5:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000432236.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAG...
ENST00000527020.5:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000436934.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAG...
ENST00000527720.5:c.403+65_403+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG ENSP00000432944.1:n.403+65_403+66insTCAGTACTCCGACGGTGGGAGGGAG...
NM_001297764.1:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG NP_001284693.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
NM_005709.3:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG NP_005700.2:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGG...
NM_153676.3:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG NP_710142.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGG...
NR_123738.1:n.605+65_605+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG
XM_011519831.1:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518133.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
XM_011519832.1:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518134.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
XM_011519833.1:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518135.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
XM_011519834.1:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518136.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
XR_930841.1:n.605+65_605+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG
XR_930842.1:n.605+65_605+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG
XM_011519832.3:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518134.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
XM_011519834.2:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_011518136.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
XM_017017072.1:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_016872561.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
XM_017017073.1:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_016872562.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
XM_017017074.1:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_016872563.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
XM_017017075.1:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG XP_016872564.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
XR_001747717.2:n.605+65_605+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG
NM_153676.4:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG MANE Select NP_710142.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGG...
NM_001297764.2:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG NP_001284693.1:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGA...
NM_005709.4:c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG MANE Plus Clinical NP_005700.2:n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGG...
NR_123738.2:n.605+65_605+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG