Canonical Allele Identifier: CA2639739679
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916433_74916437del , CM000679.2:g.74916433_74916437del GRCh38
NC_000017.10:g.72912525_72912529del , CM000679.1:g.72912525_72912529del GRCh37
NC_000017.9:g.70424120_70424124del NCBI36
NG_007882.1:g.11823_11827del
NG_007882.2:g.11827_11831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*1636_*1640del MANE Select ENSP00000480279.1:n.*1636_*1640del
ENST00000614341.4:c.*1636_*1640del ENSP00000480279.1:n.*1636_*1640del
NM_001282489.2:c.*1636_*1640del NP_001269418.1:n.*1636_*1640del
NM_173477.4:c.*1636_*1640del NP_775748.2:n.*1636_*1640del
XM_011524296.1:c.*1636_*1640del XP_011522598.1:n.*1636_*1640del
XM_011524296.2:c.*1636_*1640del XP_011522598.1:n.*1636_*1640del
NM_173477.5:c.*1636_*1640del MANE Select NP_775748.2:n.*1636_*1640del
NM_001282489.3:c.*1636_*1640del NP_001269418.1:n.*1636_*1640del