Canonical Allele Identifier: CA2275254198
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2038883032
gnomAD v4: 17-74917524-GT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917525del , CM000679.2:g.74917525del GRCh38
NC_000017.10:g.72913619del , CM000679.1:g.72913619del GRCh37
NC_000017.9:g.70425214del NCBI36
NG_007882.1:g.10733del
NG_007882.2:g.10739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*548del MANE Select ENSP00000480279.1:n.*548del
ENST00000614341.4:c.*548del ENSP00000480279.1:n.*548del
NM_001282489.2:c.*548del NP_001269418.1:n.*548del
NM_173477.4:c.*548del NP_775748.2:n.*548del
XM_011524296.1:c.*548del XP_011522598.1:n.*548del
XM_011524296.2:c.*548del XP_011522598.1:n.*548del
NM_173477.5:c.*548del MANE Select NP_775748.2:n.*548del
NM_001282489.3:c.*548del NP_001269418.1:n.*548del
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