Canonical Allele Identifier: CA1955169969
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494528_17494529delinsTG , CM000673.2:g.17494528_17494529delinsTG GRCh38
NC_000011.9:g.17516075_17516076delinsTG , CM000673.1:g.17516075_17516076delinsTG GRCh37
NC_000011.8:g.17472651_17472652delinsTG NCBI36
NG_011883.1:g.54888_54889delinsCA
NG_011883.2:g.54888_54889delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-153_2656-152delinsCA MANE Select ENSP00000005226.7:n.2656-153_2656-152delinsCA
ENST00000318024.9:c.1647-153_1647-152delinsCA MANE Plus Clinical ENSP00000317018.4:n.1647-153_1647-152delinsCA
ENST00000005226.11:c.2656-153_2656-152delinsCA ENSP00000005226.7:n.2656-153_2656-152delinsCA
ENST00000318024.8:c.1647-153_1647-152delinsCA ENSP00000317018.4:n.1647-153_1647-152delinsCA
ENST00000526313.5:c.*361-153_*361-152delinsCA ENSP00000432236.1:n.*361-153_*361-152delinsCA
ENST00000527020.5:c.1590-153_1590-152delinsCA ENSP00000436934.1:n.1590-153_1590-152delinsCA
ENST00000527551.1:n.157-153_157-152delinsCA
ENST00000527720.5:c.1554-153_1554-152delinsCA ENSP00000432944.1:n.1554-153_1554-152delinsCA
ENST00000529563.5:n.531-153_531-152delinsCA
ENST00000624811.1:n.565_566delinsCA
NM_001297764.1:c.1590-153_1590-152delinsCA NP_001284693.1:n.1590-153_1590-152delinsCA
NM_005709.3:c.1647-153_1647-152delinsCA NP_005700.2:n.1647-153_1647-152delinsCA
NM_153676.3:c.2656-153_2656-152delinsCA NP_710142.1:n.2656-153_2656-152delinsCA
NR_123738.1:n.1682-153_1682-152delinsCA
XM_011519831.1:c.2571-153_2571-152delinsCA XP_011518133.1:n.2571-153_2571-152delinsCA
XM_011519832.1:c.1800-153_1800-152delinsCA XP_011518134.1:n.1800-153_1800-152delinsCA
XM_011519832.3:c.1800-153_1800-152delinsCA XP_011518134.1:n.1800-153_1800-152delinsCA
XM_017017075.1:c.*824_*825delinsCA XP_016872564.1:n.*824_*825delinsCA
XR_001747717.2:n.1806-153_1806-152delinsCA
NM_153676.4:c.2656-153_2656-152delinsCA MANE Select NP_710142.1:n.2656-153_2656-152delinsCA
NM_001297764.2:c.1590-153_1590-152delinsCA NP_001284693.1:n.1590-153_1590-152delinsCA
NM_005709.4:c.1647-153_1647-152delinsCA MANE Plus Clinical NP_005700.2:n.1647-153_1647-152delinsCA
NR_123738.2:n.1682-153_1682-152delinsCA