Canonical Allele Identifier: CA2639743527
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917285del , CM000679.2:g.74917285del GRCh38
NC_000017.10:g.72913379del , CM000679.1:g.72913379del GRCh37
NC_000017.9:g.70424974del NCBI36
NG_007882.1:g.10977del
NG_007882.2:g.10983del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*792del MANE Select ENSP00000480279.1:n.*792del
ENST00000614341.4:c.*792del ENSP00000480279.1:n.*792del
NM_001282489.2:c.*792del NP_001269418.1:n.*792del
NM_173477.4:c.*792del NP_775748.2:n.*792del
XM_011524296.1:c.*792del XP_011522598.1:n.*792del
XM_011524296.2:c.*792del XP_011522598.1:n.*792del
NM_173477.5:c.*792del MANE Select NP_775748.2:n.*792del
NM_001282489.3:c.*792del NP_001269418.1:n.*792del