Canonical Allele Identifier: CA2275253525
Gene: USH1G HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916277_74916278delinsTG , CM000679.2:g.74916277_74916278delinsTG GRCh38
NC_000017.10:g.72912369_72912370delinsTG , CM000679.1:g.72912369_72912370delinsTG GRCh37
NC_000017.9:g.70423964_70423965delinsTG NCBI36
NG_007882.1:g.11982_11983delinsCA
NG_007882.2:g.11986_11987delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.*1795_*1796delinsCA MANE Select ENSP00000480279.1:n.*1795_*1796delinsCA
ENST00000614341.4:c.*1795_*1796delinsCA ENSP00000480279.1:n.*1795_*1796delinsCA
NM_001282489.2:c.*1795_*1796delinsCA NP_001269418.1:n.*1795_*1796delinsCA
NM_173477.4:c.*1795_*1796delinsCA NP_775748.2:n.*1795_*1796delinsCA
XM_011524296.1:c.*1795_*1796delinsCA XP_011522598.1:n.*1795_*1796delinsCA
XM_011524296.2:c.*1795_*1796delinsCA XP_011522598.1:n.*1795_*1796delinsCA
NM_173477.5:c.*1795_*1796delinsCA MANE Select NP_775748.2:n.*1795_*1796delinsCA
NM_001282489.3:c.*1795_*1796delinsCA NP_001269418.1:n.*1795_*1796delinsCA
Search 100 bp 5'
Search 100 bp 3'