Canonical Allele Identifier: CA2790591851
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494485_17494486insACA , CM000673.2:g.17494485_17494486insACA GRCh38
NC_000011.9:g.17516032_17516033insACA , CM000673.1:g.17516032_17516033insACA GRCh37
NC_000011.8:g.17472608_17472609insACA NCBI36
NG_011883.1:g.54931_54932insTGT
NG_011883.2:g.54931_54932insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-110_2656-109insTGT MANE Select ENSP00000005226.7:n.2656-110_2656-109insTGT
ENST00000318024.9:c.1647-110_1647-109insTGT MANE Plus Clinical ENSP00000317018.4:n.1647-110_1647-109insTGT
ENST00000005226.11:c.2656-110_2656-109insTGT ENSP00000005226.7:n.2656-110_2656-109insTGT
ENST00000318024.8:c.1647-110_1647-109insTGT ENSP00000317018.4:n.1647-110_1647-109insTGT
ENST00000526313.5:c.*361-110_*361-109insTGT ENSP00000432236.1:n.*361-110_*361-109insTGT
ENST00000527020.5:c.1590-110_1590-109insTGT ENSP00000436934.1:n.1590-110_1590-109insTGT
ENST00000527551.1:n.157-110_157-109insTGT
ENST00000527720.5:c.1554-110_1554-109insTGT ENSP00000432944.1:n.1554-110_1554-109insTGT
ENST00000529563.5:n.531-110_531-109insTGT
ENST00000624811.1:n.608_609insTGT
NM_001297764.1:c.1590-110_1590-109insTGT NP_001284693.1:n.1590-110_1590-109insTGT
NM_005709.3:c.1647-110_1647-109insTGT NP_005700.2:n.1647-110_1647-109insTGT
NM_153676.3:c.2656-110_2656-109insTGT NP_710142.1:n.2656-110_2656-109insTGT
NR_123738.1:n.1682-110_1682-109insTGT
XM_011519831.1:c.2571-110_2571-109insTGT XP_011518133.1:n.2571-110_2571-109insTGT
XM_011519832.1:c.1800-110_1800-109insTGT XP_011518134.1:n.1800-110_1800-109insTGT
XM_011519832.3:c.1800-110_1800-109insTGT XP_011518134.1:n.1800-110_1800-109insTGT
XM_017017075.1:c.*867_*868insTGT XP_016872564.1:n.*867_*868insTGT
XR_001747717.2:n.1806-110_1806-109insTGT
NM_153676.4:c.2656-110_2656-109insTGT MANE Select NP_710142.1:n.2656-110_2656-109insTGT
NM_001297764.2:c.1590-110_1590-109insTGT NP_001284693.1:n.1590-110_1590-109insTGT
NM_005709.4:c.1647-110_1647-109insTGT MANE Plus Clinical NP_005700.2:n.1647-110_1647-109insTGT
NR_123738.2:n.1682-110_1682-109insTGT