Canonical Allele Identifier: CA986276002
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2038867487
gnomAD v4: 17-74916343-TGGCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916349_74916352del , CM000679.2:g.74916349_74916352del GRCh38
NC_000017.10:g.72912441_72912444del , CM000679.1:g.72912441_72912444del GRCh37
NC_000017.9:g.70424036_70424039del NCBI36
NG_007882.1:g.11913_11916del
NG_007882.2:g.11917_11920del

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.*1726_*1729del MANE Select ENSP00000480279.1:n.*1726_*1729del
ENST00000614341.4:c.*1726_*1729del ENSP00000480279.1:n.*1726_*1729del
NM_001282489.2:c.*1726_*1729del NP_001269418.1:n.*1726_*1729del
NM_173477.4:c.*1726_*1729del NP_775748.2:n.*1726_*1729del
XM_011524296.1:c.*1726_*1729del XP_011522598.1:n.*1726_*1729del
XM_011524296.2:c.*1726_*1729del XP_011522598.1:n.*1726_*1729del
NM_173477.5:c.*1726_*1729del MANE Select NP_775748.2:n.*1726_*1729del
NM_001282489.3:c.*1726_*1729del NP_001269418.1:n.*1726_*1729del
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Search 100 bp 3'