Canonical Allele Identifier: CA2790593451
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17527077_17527078insACA , CM000673.2:g.17527077_17527078insACA GRCh38
NC_000011.9:g.17548624_17548625insACA , CM000673.1:g.17548624_17548625insACA GRCh37
NC_000011.8:g.17505200_17505201insACA NCBI36
NG_011883.1:g.22339_22340insTGT
NG_011883.2:g.22339_22340insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.497-38_497-37insTGT MANE Select ENSP00000005226.7:n.497-38_497-37insTGT
ENST00000318024.9:c.497-38_497-37insTGT MANE Plus Clinical ENSP00000317018.4:n.497-38_497-37insTGT
ENST00000005226.11:c.497-38_497-37insTGT ENSP00000005226.7:n.497-38_497-37insTGT
ENST00000318024.8:c.497-38_497-37insTGT ENSP00000317018.4:n.497-38_497-37insTGT
ENST00000526181.1:c.530-38_530-37insTGT ENSP00000437128.1:n.530-38_530-37insTGT
ENST00000526313.5:c.497-38_497-37insTGT ENSP00000432236.1:n.497-38_497-37insTGT
ENST00000527020.5:c.497-38_497-37insTGT ENSP00000436934.1:n.497-38_497-37insTGT
ENST00000527720.5:c.404-38_404-37insTGT ENSP00000432944.1:n.404-38_404-37insTGT
NM_001297764.1:c.497-38_497-37insTGT NP_001284693.1:n.497-38_497-37insTGT
NM_005709.3:c.497-38_497-37insTGT NP_005700.2:n.497-38_497-37insTGT
NM_153676.3:c.497-38_497-37insTGT NP_710142.1:n.497-38_497-37insTGT
NR_123738.1:n.606-38_606-37insTGT
XM_011519831.1:c.497-38_497-37insTGT XP_011518133.1:n.497-38_497-37insTGT
XM_011519832.1:c.497-38_497-37insTGT XP_011518134.1:n.497-38_497-37insTGT
XM_011519833.1:c.497-38_497-37insTGT XP_011518135.1:n.497-38_497-37insTGT
XM_011519834.1:c.497-38_497-37insTGT XP_011518136.1:n.497-38_497-37insTGT
XR_930841.1:n.606-38_606-37insTGT
XR_930842.1:n.606-38_606-37insTGT
XM_011519832.3:c.497-38_497-37insTGT XP_011518134.1:n.497-38_497-37insTGT
XM_011519834.2:c.497-38_497-37insTGT XP_011518136.1:n.497-38_497-37insTGT
XM_017017072.1:c.497-38_497-37insTGT XP_016872561.1:n.497-38_497-37insTGT
XM_017017073.1:c.497-38_497-37insTGT XP_016872562.1:n.497-38_497-37insTGT
XM_017017074.1:c.497-38_497-37insTGT XP_016872563.1:n.497-38_497-37insTGT
XM_017017075.1:c.497-38_497-37insTGT XP_016872564.1:n.497-38_497-37insTGT
XR_001747717.2:n.606-38_606-37insTGT
NM_153676.4:c.497-38_497-37insTGT MANE Select NP_710142.1:n.497-38_497-37insTGT
NM_001297764.2:c.497-38_497-37insTGT NP_001284693.1:n.497-38_497-37insTGT
NM_005709.4:c.497-38_497-37insTGT MANE Plus Clinical NP_005700.2:n.497-38_497-37insTGT
NR_123738.2:n.606-38_606-37insTGT