Canonical Allele Identifier: CA340026
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 2916
dbSNP Id: rs397515345

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919988_74920007del , CM000679.2:g.74919988_74920007del GRCh38
NC_000017.10:g.72916083_72916102del , CM000679.1:g.72916083_72916102del GRCh37
NC_000017.9:g.70427678_70427697del NCBI36
NG_007882.1:g.8253_8272del
NG_033062.1:g.714_733del
NG_007882.2:g.8260_8279del
NG_033062.2:g.714_733del

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.832_851del MANE Select ENSP00000480279.1:p.Ser278ProfsTer?
ENST00000579243.1:c.*431_*450del ENSP00000462568.1:p.=
ENST00000614341.4:c.832_851del ENSP00000480279.1:p.Ser278ProfsTer?
NM_001282489.2:c.523_542del NP_001269418.1:p.Ser175ProfsTer?
NM_173477.4:c.832_851del NP_775748.2:p.Ser278ProfsTer?
XM_011524296.1:c.523_542del XP_011522598.1:p.Ser175ProfsTer?
XM_011524296.2:c.523_542del XP_011522598.1:p.Ser175ProfsTer?
NM_173477.5:c.832_851del MANE Select NP_775748.2:p.Ser278ProfsTer?
NM_001282489.3:c.523_542del NP_001269418.1:p.Ser175ProfsTer?