Canonical Allele Identifier: CA2574769492
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17527104_17527106del , CM000673.2:g.17527104_17527106del GRCh38
NC_000011.9:g.17548651_17548653del , CM000673.1:g.17548651_17548653del GRCh37
NC_000011.8:g.17505227_17505229del NCBI36
NG_011883.1:g.22312_22314del
NG_011883.2:g.22312_22314del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.497-65_497-63del MANE Select ENSP00000005226.7:n.497-65_497-63del
ENST00000318024.9:c.497-65_497-63del MANE Plus Clinical ENSP00000317018.4:n.497-65_497-63del
ENST00000005226.11:c.497-65_497-63del ENSP00000005226.7:n.497-65_497-63del
ENST00000318024.8:c.497-65_497-63del ENSP00000317018.4:n.497-65_497-63del
ENST00000526181.1:c.530-65_530-63del ENSP00000437128.1:n.530-65_530-63del
ENST00000526313.5:c.497-65_497-63del ENSP00000432236.1:n.497-65_497-63del
ENST00000527020.5:c.497-65_497-63del ENSP00000436934.1:n.497-65_497-63del
ENST00000527720.5:c.404-65_404-63del ENSP00000432944.1:n.404-65_404-63del
NM_001297764.1:c.497-65_497-63del NP_001284693.1:n.497-65_497-63del
NM_005709.3:c.497-65_497-63del NP_005700.2:n.497-65_497-63del
NM_153676.3:c.497-65_497-63del NP_710142.1:n.497-65_497-63del
NR_123738.1:n.606-65_606-63del
XM_011519831.1:c.497-65_497-63del XP_011518133.1:n.497-65_497-63del
XM_011519832.1:c.497-65_497-63del XP_011518134.1:n.497-65_497-63del
XM_011519833.1:c.497-65_497-63del XP_011518135.1:n.497-65_497-63del
XM_011519834.1:c.497-65_497-63del XP_011518136.1:n.497-65_497-63del
XR_930841.1:n.606-65_606-63del
XR_930842.1:n.606-65_606-63del
XM_011519832.3:c.497-65_497-63del XP_011518134.1:n.497-65_497-63del
XM_011519834.2:c.497-65_497-63del XP_011518136.1:n.497-65_497-63del
XM_017017072.1:c.497-65_497-63del XP_016872561.1:n.497-65_497-63del
XM_017017073.1:c.497-65_497-63del XP_016872562.1:n.497-65_497-63del
XM_017017074.1:c.497-65_497-63del XP_016872563.1:n.497-65_497-63del
XM_017017075.1:c.497-65_497-63del XP_016872564.1:n.497-65_497-63del
XR_001747717.2:n.606-65_606-63del
NM_153676.4:c.497-65_497-63del MANE Select NP_710142.1:n.497-65_497-63del
NM_001297764.2:c.497-65_497-63del NP_001284693.1:n.497-65_497-63del
NM_005709.4:c.497-65_497-63del MANE Plus Clinical NP_005700.2:n.497-65_497-63del
NR_123738.2:n.606-65_606-63del