Canonical Allele Identifier: CA2639743865
Gene: USH1G HGNC NCBI

Linked Data

gnomAD v4: 17-74917438-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917443del , CM000679.2:g.74917443del GRCh38
NC_000017.10:g.72913537del , CM000679.1:g.72913537del GRCh37
NC_000017.9:g.70425132del NCBI36
NG_007882.1:g.10819del
NG_007882.2:g.10825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*634del MANE Select ENSP00000480279.1:n.*634del
ENST00000614341.4:c.*634del ENSP00000480279.1:n.*634del
NM_001282489.2:c.*634del NP_001269418.1:n.*634del
NM_173477.4:c.*634del NP_775748.2:n.*634del
XM_011524296.1:c.*634del XP_011522598.1:n.*634del
XM_011524296.2:c.*634del XP_011522598.1:n.*634del
NM_173477.5:c.*634del MANE Select NP_775748.2:n.*634del
NM_001282489.3:c.*634del NP_001269418.1:n.*634del
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Search 100 bp 3'