Canonical Allele Identifier: CA2514643758
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917340_74917374del , CM000679.2:g.74917340_74917374del GRCh38
NC_000017.10:g.72913434_72913468del , CM000679.1:g.72913434_72913468del GRCh37
NC_000017.9:g.70425029_70425063del NCBI36
NG_007882.1:g.10884_10918del
NG_007882.2:g.10890_10924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*699_*733del MANE Select ENSP00000480279.1:n.*699_*733del
ENST00000614341.4:c.*699_*733del ENSP00000480279.1:n.*699_*733del
NM_001282489.2:c.*699_*733del NP_001269418.1:n.*699_*733del
NM_173477.4:c.*699_*733del NP_775748.2:n.*699_*733del
XM_011524296.1:c.*699_*733del XP_011522598.1:n.*699_*733del
XM_011524296.2:c.*699_*733del XP_011522598.1:n.*699_*733del
NM_173477.5:c.*699_*733del MANE Select NP_775748.2:n.*699_*733del
NM_001282489.3:c.*699_*733del NP_001269418.1:n.*699_*733del