Canonical Allele Identifier: CA2810423465
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917268_74917269insA , CM000679.2:g.74917268_74917269insA GRCh38
NC_000017.10:g.72913362_72913363insA , CM000679.1:g.72913362_72913363insA GRCh37
NC_000017.9:g.70424957_70424958insA NCBI36
NG_007882.1:g.10989_10990insT
NG_007882.2:g.10995_10996insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*804_*805insT MANE Select ENSP00000480279.1:n.*804_*805insT
ENST00000614341.4:c.*804_*805insT ENSP00000480279.1:n.*804_*805insT
NM_001282489.2:c.*804_*805insT NP_001269418.1:n.*804_*805insT
NM_173477.4:c.*804_*805insT NP_775748.2:n.*804_*805insT
XM_011524296.1:c.*804_*805insT XP_011522598.1:n.*804_*805insT
XM_011524296.2:c.*804_*805insT XP_011522598.1:n.*804_*805insT
NM_173477.5:c.*804_*805insT MANE Select NP_775748.2:n.*804_*805insT
NM_001282489.3:c.*804_*805insT NP_001269418.1:n.*804_*805insT