Canonical Allele Identifier: CA2639738944
Gene: USH1G HGNC NCBI

Linked Data

gnomAD v4: 17-74916172-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916174del , CM000679.2:g.74916174del GRCh38
NC_000017.10:g.72912266del , CM000679.1:g.72912266del GRCh37
NC_000017.9:g.70423861del NCBI36
NG_007882.1:g.12087del
NG_007882.2:g.12091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*1900del MANE Select ENSP00000480279.1:n.*1900del
ENST00000614341.4:c.*1900del ENSP00000480279.1:n.*1900del
NM_001282489.2:c.*1900del NP_001269418.1:n.*1900del
NM_173477.4:c.*1900del NP_775748.2:n.*1900del
XM_011524296.1:c.*1900del XP_011522598.1:n.*1900del
XM_011524296.2:c.*1900del XP_011522598.1:n.*1900del
NM_173477.5:c.*1900del MANE Select NP_775748.2:n.*1900del
NM_001282489.3:c.*1900del NP_001269418.1:n.*1900del
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