Canonical Allele Identifier: CA2612670488
Gene: USH1C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494596_17494597insTTTCCACTTCCCTGCAGGACCTTCTTCTGAAGTCCAAAA , CM000673.2:g.17494596_17494597insTTTCCACTTCCCTGCAGGACCTTCTTCTGAAGTCCAAAA GRCh38
NC_000011.9:g.17516143_17516144insTTTCCACTTCCCTGCAGGACCTTCTTCTGAAGTCCAAAA , CM000673.1:g.17516143_17516144insTTTCCACTTCCCTGCAGGACCTTCTTCTGAAGTCCAAAA GRCh37
NC_000011.8:g.17472719_17472720insTTTCCACTTCCCTGCAGGACCTTCTTCTGAAGTCCAAAA NCBI36
NG_011883.1:g.54820_54821insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA
NG_011883.2:g.54820_54821insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-221_2656-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA MANE Select ENSP00000005226.7:n.2656-221_2656-220insTTTTGGACTTCAGAAGAAGGT...
ENST00000318024.9:c.1647-221_1647-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA MANE Plus Clinical ENSP00000317018.4:n.1647-221_1647-220insTTTTGGACTTCAGAAGAAGGT...
ENST00000005226.11:c.2656-221_2656-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA ENSP00000005226.7:n.2656-221_2656-220insTTTTGGACTTCAGAAGAAGGT...
ENST00000318024.8:c.1647-221_1647-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA ENSP00000317018.4:n.1647-221_1647-220insTTTTGGACTTCAGAAGAAGGT...
ENST00000526313.5:c.*361-221_*361-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA ENSP00000432236.1:n.*361-221_*361-220insTTTTGGACTTCAGAAGAAGGT...
ENST00000527020.5:c.1590-221_1590-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA ENSP00000436934.1:n.1590-221_1590-220insTTTTGGACTTCAGAAGAAGGT...
ENST00000527551.1:n.157-221_157-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA
ENST00000527720.5:c.1554-221_1554-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA ENSP00000432944.1:n.1554-221_1554-220insTTTTGGACTTCAGAAGAAGGT...
ENST00000529563.5:n.531-221_531-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA
ENST00000624811.1:n.497_498insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA
NM_001297764.1:c.1590-221_1590-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA NP_001284693.1:n.1590-221_1590-220insTTTTGGACTTCAGAAGAAGGTCCT...
NM_005709.3:c.1647-221_1647-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA NP_005700.2:n.1647-221_1647-220insTTTTGGACTTCAGAAGAAGGTCCTGCA...
NM_153676.3:c.2656-221_2656-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA NP_710142.1:n.2656-221_2656-220insTTTTGGACTTCAGAAGAAGGTCCTGCA...
NR_123738.1:n.1682-221_1682-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA
XM_011519831.1:c.2571-221_2571-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA XP_011518133.1:n.2571-221_2571-220insTTTTGGACTTCAGAAGAAGGTCCT...
XM_011519832.1:c.1800-221_1800-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA XP_011518134.1:n.1800-221_1800-220insTTTTGGACTTCAGAAGAAGGTCCT...
XM_011519832.3:c.1800-221_1800-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA XP_011518134.1:n.1800-221_1800-220insTTTTGGACTTCAGAAGAAGGTCCT...
XM_017017075.1:c.*756_*757insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA XP_016872564.1:n.*756_*757insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAA...
XR_001747717.2:n.1806-221_1806-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA
NM_153676.4:c.2656-221_2656-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA MANE Select NP_710142.1:n.2656-221_2656-220insTTTTGGACTTCAGAAGAAGGTCCTGCA...
NM_001297764.2:c.1590-221_1590-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA NP_001284693.1:n.1590-221_1590-220insTTTTGGACTTCAGAAGAAGGTCCT...
NM_005709.4:c.1647-221_1647-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA MANE Plus Clinical NP_005700.2:n.1647-221_1647-220insTTTTGGACTTCAGAAGAAGGTCCTGCA...
NR_123738.2:n.1682-221_1682-220insTTTTGGACTTCAGAAGAAGGTCCTGCAGGGAAGTGGAAA