Canonical Allele Identifier: CA2790591806
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494451_17494452insAGAG , CM000673.2:g.17494451_17494452insAGAG GRCh38
NC_000011.9:g.17515998_17515999insAGAG , CM000673.1:g.17515998_17515999insAGAG GRCh37
NC_000011.8:g.17472574_17472575insAGAG NCBI36
NG_011883.1:g.54965_54966insCTCT
NG_011883.2:g.54965_54966insCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-76_2656-75insCTCT MANE Select ENSP00000005226.7:n.2656-76_2656-75insCTCT
ENST00000318024.9:c.1647-76_1647-75insCTCT MANE Plus Clinical ENSP00000317018.4:n.1647-76_1647-75insCTCT
ENST00000005226.11:c.2656-76_2656-75insCTCT ENSP00000005226.7:n.2656-76_2656-75insCTCT
ENST00000318024.8:c.1647-76_1647-75insCTCT ENSP00000317018.4:n.1647-76_1647-75insCTCT
ENST00000526313.5:c.*361-76_*361-75insCTCT ENSP00000432236.1:n.*361-76_*361-75insCTCT
ENST00000527020.5:c.1590-76_1590-75insCTCT ENSP00000436934.1:n.1590-76_1590-75insCTCT
ENST00000527551.1:n.157-76_157-75insCTCT
ENST00000527720.5:c.1554-76_1554-75insCTCT ENSP00000432944.1:n.1554-76_1554-75insCTCT
ENST00000529563.5:n.531-76_531-75insCTCT
ENST00000624811.1:n.642_643insCTCT
NM_001297764.1:c.1590-76_1590-75insCTCT NP_001284693.1:n.1590-76_1590-75insCTCT
NM_005709.3:c.1647-76_1647-75insCTCT NP_005700.2:n.1647-76_1647-75insCTCT
NM_153676.3:c.2656-76_2656-75insCTCT NP_710142.1:n.2656-76_2656-75insCTCT
NR_123738.1:n.1682-76_1682-75insCTCT
XM_011519831.1:c.2571-76_2571-75insCTCT XP_011518133.1:n.2571-76_2571-75insCTCT
XM_011519832.1:c.1800-76_1800-75insCTCT XP_011518134.1:n.1800-76_1800-75insCTCT
XM_011519832.3:c.1800-76_1800-75insCTCT XP_011518134.1:n.1800-76_1800-75insCTCT
XM_017017075.1:c.*901_*902insCTCT XP_016872564.1:n.*901_*902insCTCT
XR_001747717.2:n.1806-76_1806-75insCTCT
NM_153676.4:c.2656-76_2656-75insCTCT MANE Select NP_710142.1:n.2656-76_2656-75insCTCT
NM_001297764.2:c.1590-76_1590-75insCTCT NP_001284693.1:n.1590-76_1590-75insCTCT
NM_005709.4:c.1647-76_1647-75insCTCT MANE Plus Clinical NP_005700.2:n.1647-76_1647-75insCTCT
NR_123738.2:n.1682-76_1682-75insCTCT