Canonical Allele Identifier: CA1955186881
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17527041_17527042delinsCT , CM000673.2:g.17527041_17527042delinsCT GRCh38
NC_000011.9:g.17548588_17548589delinsCT , CM000673.1:g.17548588_17548589delinsCT GRCh37
NC_000011.8:g.17505164_17505165delinsCT NCBI36
NG_011883.1:g.22375_22376delinsAG
NG_011883.2:g.22375_22376delinsAG

Transcript Alleles

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