Canonical Allele Identifier: CA2639743448
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917228_74917230del , CM000679.2:g.74917228_74917230del GRCh38
NC_000017.10:g.72913322_72913324del , CM000679.1:g.72913322_72913324del GRCh37
NC_000017.9:g.70424917_70424919del NCBI36
NG_007882.1:g.11028_11030del
NG_007882.2:g.11034_11036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*843_*845del MANE Select ENSP00000480279.1:n.*843_*845del
ENST00000614341.4:c.*843_*845del ENSP00000480279.1:n.*843_*845del
NM_001282489.2:c.*843_*845del NP_001269418.1:n.*843_*845del
NM_173477.4:c.*843_*845del NP_775748.2:n.*843_*845del
XM_011524296.1:c.*843_*845del XP_011522598.1:n.*843_*845del
XM_011524296.2:c.*843_*845del XP_011522598.1:n.*843_*845del
NM_173477.5:c.*843_*845del MANE Select NP_775748.2:n.*843_*845del
NM_001282489.3:c.*843_*845del NP_001269418.1:n.*843_*845del