Canonical Allele Identifier: CA2275253519
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2038866601
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916269_74916271dup , CM000679.2:g.74916269_74916271dup GRCh38
NC_000017.10:g.72912361_72912363dup , CM000679.1:g.72912361_72912363dup GRCh37
NC_000017.9:g.70423956_70423958dup NCBI36
NG_007882.1:g.11990_11992dup
NG_007882.2:g.11994_11996dup

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.*1803_*1805dup MANE Select ENSP00000480279.1:n.*1803_*1805dup
ENST00000614341.4:c.*1803_*1805dup ENSP00000480279.1:n.*1803_*1805dup
NM_001282489.2:c.*1803_*1805dup NP_001269418.1:n.*1803_*1805dup
NM_173477.4:c.*1803_*1805dup NP_775748.2:n.*1803_*1805dup
XM_011524296.1:c.*1803_*1805dup XP_011522598.1:n.*1803_*1805dup
XM_011524296.2:c.*1803_*1805dup XP_011522598.1:n.*1803_*1805dup
NM_173477.5:c.*1803_*1805dup MANE Select NP_775748.2:n.*1803_*1805dup
NM_001282489.3:c.*1803_*1805dup NP_001269418.1:n.*1803_*1805dup
Search 100 bp 5'
Search 100 bp 3'