Canonical Allele Identifier: CA16621616
Gene: USH1C HGNC NCBI

Linked Data

ClinVar Variation Id: 424972
dbSNP Id: rs1064797153

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17523239_17523246del , CM000673.2:g.17523239_17523246del GRCh38
NC_000011.9:g.17544786_17544793del , CM000673.1:g.17544786_17544793del GRCh37
NC_000011.8:g.17501362_17501369del NCBI36
NG_011883.1:g.26171_26178del
NG_011883.2:g.26171_26178del

Transcript Alleles

HGVS Amino-acid change
ENST00000005226.12:c.841_848del MANE Select ENSP00000005226.7:p.Ser281ProfsTer28
ENST00000318024.9:c.841_848del MANE Plus Clinical ENSP00000317018.4:p.Ser281ProfsTer28
ENST00000005226.11:c.841_848del ENSP00000005226.7:p.Ser281ProfsTer28
ENST00000318024.8:c.841_848del ENSP00000317018.4:p.Ser281ProfsTer28
ENST00000526181.1:c.874_881del ENSP00000437128.1:p.Ser292ProfsTer?
ENST00000526313.5:c.841_848del ENSP00000432236.1:p.Ser281ProfsTer28
ENST00000527020.5:c.819+173_819+180del ENSP00000436934.1:n.819+173_819+180del
ENST00000527720.5:c.748_755del ENSP00000432944.1:p.Ser250ProfsTer28
NM_001297764.1:c.819+173_819+180del NP_001284693.1:n.819+173_819+180del
NM_005709.3:c.841_848del NP_005700.2:p.Ser281ProfsTer28
NM_153676.3:c.841_848del NP_710142.1:p.Ser281ProfsTer28
NR_123738.1:n.950_957del
XM_011519831.1:c.841_848del XP_011518133.1:p.Ser281ProfsTer28
XM_011519832.1:c.841_848del XP_011518134.1:p.Ser281ProfsTer28
XM_011519833.1:c.841_848del XP_011518135.1:p.Ser281ProfsTer28
XM_011519834.1:c.841_848del XP_011518136.1:p.Ser281ProfsTer28
XR_930841.1:n.950_957del
XR_930842.1:n.950_957del
XM_011519832.3:c.841_848del XP_011518134.1:p.Ser281ProfsTer28
XM_011519834.2:c.841_848del XP_011518136.1:p.Ser281ProfsTer28
XM_017017072.1:c.841_848del XP_016872561.1:p.Ser281ProfsTer28
XM_017017073.1:c.819+173_819+180del XP_016872562.1:n.819+173_819+180del
XM_017017074.1:c.841_848del XP_016872563.1:p.Ser281ProfsTer28
XM_017017075.1:c.841_848del XP_016872564.1:p.Ser281ProfsTer28
XR_001747717.2:n.950_957del
NM_153676.4:c.841_848del MANE Select NP_710142.1:p.Ser281ProfsTer28
NM_001297764.2:c.819+173_819+180del NP_001284693.1:n.819+173_819+180del
NM_005709.4:c.841_848del MANE Plus Clinical NP_005700.2:p.Ser281ProfsTer28
NR_123738.2:n.950_957del