Canonical Allele Identifier: CA2639744254
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917585del , CM000679.2:g.74917585del GRCh38
NC_000017.10:g.72913679del , CM000679.1:g.72913679del GRCh37
NC_000017.9:g.70425274del NCBI36
NG_007882.1:g.10676del
NG_007882.2:g.10682del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*491del MANE Select ENSP00000480279.1:n.*491del
ENST00000614341.4:c.*491del ENSP00000480279.1:n.*491del
NM_001282489.2:c.*491del NP_001269418.1:n.*491del
NM_173477.4:c.*491del NP_775748.2:n.*491del
XM_011524296.1:c.*491del XP_011522598.1:n.*491del
XM_011524296.2:c.*491del XP_011522598.1:n.*491del
NM_173477.5:c.*491del MANE Select NP_775748.2:n.*491del
NM_001282489.3:c.*491del NP_001269418.1:n.*491del