Canonical Allele Identifier: CA2810423106
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916253_74916254insA , CM000679.2:g.74916253_74916254insA GRCh38
NC_000017.10:g.72912345_72912346insA , CM000679.1:g.72912345_72912346insA GRCh37
NC_000017.9:g.70423940_70423941insA NCBI36
NG_007882.1:g.12006_12007insT
NG_007882.2:g.12010_12011insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*1819_*1820insT MANE Select ENSP00000480279.1:n.*1819_*1820insT
ENST00000614341.4:c.*1819_*1820insT ENSP00000480279.1:n.*1819_*1820insT
NM_001282489.2:c.*1819_*1820insT NP_001269418.1:n.*1819_*1820insT
NM_173477.4:c.*1819_*1820insT NP_775748.2:n.*1819_*1820insT
XM_011524296.1:c.*1819_*1820insT XP_011522598.1:n.*1819_*1820insT
XM_011524296.2:c.*1819_*1820insT XP_011522598.1:n.*1819_*1820insT
NM_173477.5:c.*1819_*1820insT MANE Select NP_775748.2:n.*1819_*1820insT
NM_001282489.3:c.*1819_*1820insT NP_001269418.1:n.*1819_*1820insT