Canonical Allele Identifier: CA597667226
Gene: USH1C HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17517467del , CM000673.2:g.17517467del GRCh38
NC_000011.9:g.17539014del , CM000673.1:g.17539014del GRCh37
NC_000011.8:g.17495590del NCBI36
NG_011883.1:g.31952del
NG_011883.2:g.31952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.1211-1175del MANE Select ENSP00000005226.7:n.1211-1175del
ENST00000318024.9:c.1220del MANE Plus Clinical ENSP00000317018.4:p.Gly407GlufsTer?
ENST00000005226.11:c.1211-1175del ENSP00000005226.7:n.1211-1175del
ENST00000318024.8:c.1220del ENSP00000317018.4:p.Gly407GlufsTer?
ENST00000526313.5:c.1210+3405del ENSP00000432236.1:n.1210+3405del
ENST00000527020.5:c.1163del ENSP00000436934.1:p.Gly388GlufsTer?
ENST00000527720.5:c.1127del ENSP00000432944.1:p.Gly376GlufsTer?
ENST00000530700.1:n.103del
NM_001297764.1:c.1163del NP_001284693.1:p.Gly388GlufsTer?
NM_005709.3:c.1220del NP_005700.2:p.Gly407GlufsTer?
NM_153676.3:c.1211-1175del NP_710142.1:n.1211-1175del
NR_123738.1:n.1319+3405del
XM_011519831.1:c.1220del XP_011518133.1:p.Gly407GlufsTer?
XM_011519832.1:c.1220del XP_011518134.1:p.Gly407GlufsTer?
XM_011519833.1:c.1220del XP_011518135.1:p.Gly407GlufsTer?
XM_011519834.1:c.1220del XP_011518136.1:p.Gly407GlufsTer?
XR_930841.1:n.1329del
XR_930842.1:n.1329del
XM_011519832.3:c.1220del XP_011518134.1:p.Gly407GlufsTer?
XM_011519834.2:c.1220del XP_011518136.1:p.Gly407GlufsTer?
XM_017017072.1:c.1220del XP_016872561.1:p.Gly407GlufsTer?
XM_017017073.1:c.1163del XP_016872562.1:p.Gly388GlufsTer?
XM_017017074.1:c.1220del XP_016872563.1:p.Gly407GlufsTer?
XM_017017075.1:c.1211-1175del XP_016872564.1:n.1211-1175del
XR_001747717.2:n.1329del
NM_153676.4:c.1211-1175del MANE Select NP_710142.1:n.1211-1175del
NM_001297764.2:c.1163del NP_001284693.1:p.Gly388GlufsTer?
NM_005709.4:c.1220del MANE Plus Clinical NP_005700.2:p.Gly407GlufsTer?
NR_123738.2:n.1319+3405del
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