Canonical Allele Identifier: CA986276026
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2038868251
gnomAD v3: 17-74916416-CAT-C
gnomAD v4: 17-74916416-CAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916417_74916418del , CM000679.2:g.74916417_74916418del GRCh38
NC_000017.10:g.72912509_72912510del , CM000679.1:g.72912509_72912510del GRCh37
NC_000017.9:g.70424104_70424105del NCBI36
NG_007882.1:g.11842_11843del
NG_007882.2:g.11846_11847del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*1655_*1656del MANE Select ENSP00000480279.1:n.*1655_*1656del
ENST00000614341.4:c.*1655_*1656del ENSP00000480279.1:n.*1655_*1656del
NM_001282489.2:c.*1655_*1656del NP_001269418.1:n.*1655_*1656del
NM_173477.4:c.*1655_*1656del NP_775748.2:n.*1655_*1656del
XM_011524296.1:c.*1655_*1656del XP_011522598.1:n.*1655_*1656del
XM_011524296.2:c.*1655_*1656del XP_011522598.1:n.*1655_*1656del
NM_173477.5:c.*1655_*1656del MANE Select NP_775748.2:n.*1655_*1656del
NM_001282489.3:c.*1655_*1656del NP_001269418.1:n.*1655_*1656del
Search 100 bp 5'
Search 100 bp 3'