Canonical Allele Identifier: CA2790593513
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17527092_17527093insAGT , CM000673.2:g.17527092_17527093insAGT GRCh38
NC_000011.9:g.17548639_17548640insAGT , CM000673.1:g.17548639_17548640insAGT GRCh37
NC_000011.8:g.17505215_17505216insAGT NCBI36
NG_011883.1:g.22324_22325insACT
NG_011883.2:g.22324_22325insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.497-53_497-52insACT MANE Select ENSP00000005226.7:n.497-53_497-52insACT
ENST00000318024.9:c.497-53_497-52insACT MANE Plus Clinical ENSP00000317018.4:n.497-53_497-52insACT
ENST00000005226.11:c.497-53_497-52insACT ENSP00000005226.7:n.497-53_497-52insACT
ENST00000318024.8:c.497-53_497-52insACT ENSP00000317018.4:n.497-53_497-52insACT
ENST00000526181.1:c.530-53_530-52insACT ENSP00000437128.1:n.530-53_530-52insACT
ENST00000526313.5:c.497-53_497-52insACT ENSP00000432236.1:n.497-53_497-52insACT
ENST00000527020.5:c.497-53_497-52insACT ENSP00000436934.1:n.497-53_497-52insACT
ENST00000527720.5:c.404-53_404-52insACT ENSP00000432944.1:n.404-53_404-52insACT
NM_001297764.1:c.497-53_497-52insACT NP_001284693.1:n.497-53_497-52insACT
NM_005709.3:c.497-53_497-52insACT NP_005700.2:n.497-53_497-52insACT
NM_153676.3:c.497-53_497-52insACT NP_710142.1:n.497-53_497-52insACT
NR_123738.1:n.606-53_606-52insACT
XM_011519831.1:c.497-53_497-52insACT XP_011518133.1:n.497-53_497-52insACT
XM_011519832.1:c.497-53_497-52insACT XP_011518134.1:n.497-53_497-52insACT
XM_011519833.1:c.497-53_497-52insACT XP_011518135.1:n.497-53_497-52insACT
XM_011519834.1:c.497-53_497-52insACT XP_011518136.1:n.497-53_497-52insACT
XR_930841.1:n.606-53_606-52insACT
XR_930842.1:n.606-53_606-52insACT
XM_011519832.3:c.497-53_497-52insACT XP_011518134.1:n.497-53_497-52insACT
XM_011519834.2:c.497-53_497-52insACT XP_011518136.1:n.497-53_497-52insACT
XM_017017072.1:c.497-53_497-52insACT XP_016872561.1:n.497-53_497-52insACT
XM_017017073.1:c.497-53_497-52insACT XP_016872562.1:n.497-53_497-52insACT
XM_017017074.1:c.497-53_497-52insACT XP_016872563.1:n.497-53_497-52insACT
XM_017017075.1:c.497-53_497-52insACT XP_016872564.1:n.497-53_497-52insACT
XR_001747717.2:n.606-53_606-52insACT
NM_153676.4:c.497-53_497-52insACT MANE Select NP_710142.1:n.497-53_497-52insACT
NM_001297764.2:c.497-53_497-52insACT NP_001284693.1:n.497-53_497-52insACT
NM_005709.4:c.497-53_497-52insACT MANE Plus Clinical NP_005700.2:n.497-53_497-52insACT
NR_123738.2:n.606-53_606-52insACT