Canonical Allele Identifier: CA2612681790
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17570088-GCAGGCAGGCAGGGGGCGAAGACTGGGCCGGGCGTGGGAGTCTGAGCGGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17570097_17570146del , CM000673.2:g.17570097_17570146del GRCh38
NC_000011.9:g.17591644_17591693del , CM000673.1:g.17591644_17591693del GRCh37
NC_000011.8:g.17548220_17548269del NCBI36
NG_033191.1:g.27725_27774del
NG_033191.2:g.27725_27774del

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.1814-116_1814-67del ENSP00000382323.2:n.1814-116_1814-67del
ENST00000399397.6:c.1778-116_1778-67del MANE Select ENSP00000382329.2:n.1778-116_1778-67del
ENST00000399391.6:c.1814-116_1814-67del ENSP00000382323.2:n.1814-116_1814-67del
ENST00000399397.5:c.1778-116_1778-67del ENSP00000382329.2:n.1778-116_1778-67del
ENST00000498332.5:n.1684-116_1684-67del
NM_001277269.1:c.1814-116_1814-67del NP_001264198.1:n.1814-116_1814-67del
NM_001292063.1:c.1778-116_1778-67del NP_001278992.1:n.1778-116_1778-67del
NM_001277269.2:c.1814-116_1814-67del NP_001264198.1:n.1814-116_1814-67del
NM_001292063.2:c.1778-116_1778-67del MANE Select NP_001278992.1:n.1778-116_1778-67del
Search 100 bp 5'
Search 100 bp 3'