Canonical Allele Identifier: CA2790591799
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494438_17494439del , CM000673.2:g.17494438_17494439del GRCh38
NC_000011.9:g.17515985_17515986del , CM000673.1:g.17515985_17515986del GRCh37
NC_000011.8:g.17472561_17472562del NCBI36
NG_011883.1:g.54978_54979del
NG_011883.2:g.54978_54979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-63_2656-62del MANE Select ENSP00000005226.7:n.2656-63_2656-62del
ENST00000318024.9:c.1647-63_1647-62del MANE Plus Clinical ENSP00000317018.4:n.1647-63_1647-62del
ENST00000005226.11:c.2656-63_2656-62del ENSP00000005226.7:n.2656-63_2656-62del
ENST00000318024.8:c.1647-63_1647-62del ENSP00000317018.4:n.1647-63_1647-62del
ENST00000526313.5:c.*361-63_*361-62del ENSP00000432236.1:n.*361-63_*361-62del
ENST00000527020.5:c.1590-63_1590-62del ENSP00000436934.1:n.1590-63_1590-62del
ENST00000527551.1:n.157-63_157-62del
ENST00000527720.5:c.1554-63_1554-62del ENSP00000432944.1:n.1554-63_1554-62del
ENST00000529563.5:n.531-63_531-62del
ENST00000624811.1:n.655_656del
NM_001297764.1:c.1590-63_1590-62del NP_001284693.1:n.1590-63_1590-62del
NM_005709.3:c.1647-63_1647-62del NP_005700.2:n.1647-63_1647-62del
NM_153676.3:c.2656-63_2656-62del NP_710142.1:n.2656-63_2656-62del
NR_123738.1:n.1682-63_1682-62del
XM_011519831.1:c.2571-63_2571-62del XP_011518133.1:n.2571-63_2571-62del
XM_011519832.1:c.1800-63_1800-62del XP_011518134.1:n.1800-63_1800-62del
XM_011519832.3:c.1800-63_1800-62del XP_011518134.1:n.1800-63_1800-62del
XM_017017075.1:c.*914_*915del XP_016872564.1:n.*914_*915del
XR_001747717.2:n.1806-63_1806-62del
NM_153676.4:c.2656-63_2656-62del MANE Select NP_710142.1:n.2656-63_2656-62del
NM_001297764.2:c.1590-63_1590-62del NP_001284693.1:n.1590-63_1590-62del
NM_005709.4:c.1647-63_1647-62del MANE Plus Clinical NP_005700.2:n.1647-63_1647-62del
NR_123738.2:n.1682-63_1682-62del