Canonical Allele Identifier: CA2790591839
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494471_17494472insAGA , CM000673.2:g.17494471_17494472insAGA GRCh38
NC_000011.9:g.17516018_17516019insAGA , CM000673.1:g.17516018_17516019insAGA GRCh37
NC_000011.8:g.17472594_17472595insAGA NCBI36
NG_011883.1:g.54945_54946insTCT
NG_011883.2:g.54945_54946insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-96_2656-95insTCT MANE Select ENSP00000005226.7:n.2656-96_2656-95insTCT
ENST00000318024.9:c.1647-96_1647-95insTCT MANE Plus Clinical ENSP00000317018.4:n.1647-96_1647-95insTCT
ENST00000005226.11:c.2656-96_2656-95insTCT ENSP00000005226.7:n.2656-96_2656-95insTCT
ENST00000318024.8:c.1647-96_1647-95insTCT ENSP00000317018.4:n.1647-96_1647-95insTCT
ENST00000526313.5:c.*361-96_*361-95insTCT ENSP00000432236.1:n.*361-96_*361-95insTCT
ENST00000527020.5:c.1590-96_1590-95insTCT ENSP00000436934.1:n.1590-96_1590-95insTCT
ENST00000527551.1:n.157-96_157-95insTCT
ENST00000527720.5:c.1554-96_1554-95insTCT ENSP00000432944.1:n.1554-96_1554-95insTCT
ENST00000529563.5:n.531-96_531-95insTCT
ENST00000624811.1:n.622_623insTCT
NM_001297764.1:c.1590-96_1590-95insTCT NP_001284693.1:n.1590-96_1590-95insTCT
NM_005709.3:c.1647-96_1647-95insTCT NP_005700.2:n.1647-96_1647-95insTCT
NM_153676.3:c.2656-96_2656-95insTCT NP_710142.1:n.2656-96_2656-95insTCT
NR_123738.1:n.1682-96_1682-95insTCT
XM_011519831.1:c.2571-96_2571-95insTCT XP_011518133.1:n.2571-96_2571-95insTCT
XM_011519832.1:c.1800-96_1800-95insTCT XP_011518134.1:n.1800-96_1800-95insTCT
XM_011519832.3:c.1800-96_1800-95insTCT XP_011518134.1:n.1800-96_1800-95insTCT
XM_017017075.1:c.*881_*882insTCT XP_016872564.1:n.*881_*882insTCT
XR_001747717.2:n.1806-96_1806-95insTCT
NM_153676.4:c.2656-96_2656-95insTCT MANE Select NP_710142.1:n.2656-96_2656-95insTCT
NM_001297764.2:c.1590-96_1590-95insTCT NP_001284693.1:n.1590-96_1590-95insTCT
NM_005709.4:c.1647-96_1647-95insTCT MANE Plus Clinical NP_005700.2:n.1647-96_1647-95insTCT
NR_123738.2:n.1682-96_1682-95insTCT