Canonical Allele Identifier: CA2790591831
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494467_17494468del , CM000673.2:g.17494467_17494468del GRCh38
NC_000011.9:g.17516014_17516015del , CM000673.1:g.17516014_17516015del GRCh37
NC_000011.8:g.17472590_17472591del NCBI36
NG_011883.1:g.54950_54951del
NG_011883.2:g.54950_54951del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-91_2656-90del MANE Select ENSP00000005226.7:n.2656-91_2656-90del
ENST00000318024.9:c.1647-91_1647-90del MANE Plus Clinical ENSP00000317018.4:n.1647-91_1647-90del
ENST00000005226.11:c.2656-91_2656-90del ENSP00000005226.7:n.2656-91_2656-90del
ENST00000318024.8:c.1647-91_1647-90del ENSP00000317018.4:n.1647-91_1647-90del
ENST00000526313.5:c.*361-91_*361-90del ENSP00000432236.1:n.*361-91_*361-90del
ENST00000527020.5:c.1590-91_1590-90del ENSP00000436934.1:n.1590-91_1590-90del
ENST00000527551.1:n.157-91_157-90del
ENST00000527720.5:c.1554-91_1554-90del ENSP00000432944.1:n.1554-91_1554-90del
ENST00000529563.5:n.531-91_531-90del
ENST00000624811.1:n.627_628del
NM_001297764.1:c.1590-91_1590-90del NP_001284693.1:n.1590-91_1590-90del
NM_005709.3:c.1647-91_1647-90del NP_005700.2:n.1647-91_1647-90del
NM_153676.3:c.2656-91_2656-90del NP_710142.1:n.2656-91_2656-90del
NR_123738.1:n.1682-91_1682-90del
XM_011519831.1:c.2571-91_2571-90del XP_011518133.1:n.2571-91_2571-90del
XM_011519832.1:c.1800-91_1800-90del XP_011518134.1:n.1800-91_1800-90del
XM_011519832.3:c.1800-91_1800-90del XP_011518134.1:n.1800-91_1800-90del
XM_017017075.1:c.*886_*887del XP_016872564.1:n.*886_*887del
XR_001747717.2:n.1806-91_1806-90del
NM_153676.4:c.2656-91_2656-90del MANE Select NP_710142.1:n.2656-91_2656-90del
NM_001297764.2:c.1590-91_1590-90del NP_001284693.1:n.1590-91_1590-90del
NM_005709.4:c.1647-91_1647-90del MANE Plus Clinical NP_005700.2:n.1647-91_1647-90del
NR_123738.2:n.1682-91_1682-90del