Canonical Allele Identifier: CA2790591890
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494530_17494531insA , CM000673.2:g.17494530_17494531insA GRCh38
NC_000011.9:g.17516077_17516078insA , CM000673.1:g.17516077_17516078insA GRCh37
NC_000011.8:g.17472653_17472654insA NCBI36
NG_011883.1:g.54886_54887insT
NG_011883.2:g.54886_54887insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-155_2656-154insT MANE Select ENSP00000005226.7:n.2656-155_2656-154insT
ENST00000318024.9:c.1647-155_1647-154insT MANE Plus Clinical ENSP00000317018.4:n.1647-155_1647-154insT
ENST00000005226.11:c.2656-155_2656-154insT ENSP00000005226.7:n.2656-155_2656-154insT
ENST00000318024.8:c.1647-155_1647-154insT ENSP00000317018.4:n.1647-155_1647-154insT
ENST00000526313.5:c.*361-155_*361-154insT ENSP00000432236.1:n.*361-155_*361-154insT
ENST00000527020.5:c.1590-155_1590-154insT ENSP00000436934.1:n.1590-155_1590-154insT
ENST00000527551.1:n.157-155_157-154insT
ENST00000527720.5:c.1554-155_1554-154insT ENSP00000432944.1:n.1554-155_1554-154insT
ENST00000529563.5:n.531-155_531-154insT
ENST00000624811.1:n.563_564insT
NM_001297764.1:c.1590-155_1590-154insT NP_001284693.1:n.1590-155_1590-154insT
NM_005709.3:c.1647-155_1647-154insT NP_005700.2:n.1647-155_1647-154insT
NM_153676.3:c.2656-155_2656-154insT NP_710142.1:n.2656-155_2656-154insT
NR_123738.1:n.1682-155_1682-154insT
XM_011519831.1:c.2571-155_2571-154insT XP_011518133.1:n.2571-155_2571-154insT
XM_011519832.1:c.1800-155_1800-154insT XP_011518134.1:n.1800-155_1800-154insT
XM_011519832.3:c.1800-155_1800-154insT XP_011518134.1:n.1800-155_1800-154insT
XM_017017075.1:c.*822_*823insT XP_016872564.1:n.*822_*823insT
XR_001747717.2:n.1806-155_1806-154insT
NM_153676.4:c.2656-155_2656-154insT MANE Select NP_710142.1:n.2656-155_2656-154insT
NM_001297764.2:c.1590-155_1590-154insT NP_001284693.1:n.1590-155_1590-154insT
NM_005709.4:c.1647-155_1647-154insT MANE Plus Clinical NP_005700.2:n.1647-155_1647-154insT
NR_123738.2:n.1682-155_1682-154insT