Canonical Allele Identifier: CA597675742

Gene: OTOG

Linked Data

• dbSNP Id: rs1565128156
• gnomAD v2: 11-17656581-CCAGG-C
• gnomAD v4: 11-17635034-CCAGG-C
• MyVariant Identifiers: chr11:g.17656582_17656585del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635039_17635042del , CM000673.2:g.17635039_17635042del	GRCh38
NC_000011.9:g.17656586_17656589del , CM000673.1:g.17656586_17656589del	GRCh37
NC_000011.8:g.17613162_17613165del	NCBI36
NG_033191.1:g.92667_92670del
NG_033191.2:g.92667_92670del

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.7622-41_7622-38del	ENSP00000382323.2:n.7622-41_7622-38del
ENST00000399397.6:c.7586-41_7586-38del MANE Select	ENSP00000382329.2:n.7586-41_7586-38del
ENST00000342528.2:c.4322-571_4322-568del	ENSP00000341666.2:n.4322-571_4322-568del
ENST00000399391.6:c.7622-41_7622-38del	ENSP00000382323.2:n.7622-41_7622-38del
ENST00000399397.5:c.7586-41_7586-38del	ENSP00000382329.2:n.7586-41_7586-38del
NM_001277269.1:c.7622-41_7622-38del	NP_001264198.1:n.7622-41_7622-38del
NM_001292063.1:c.7586-41_7586-38del	NP_001278992.1:n.7586-41_7586-38del
NM_001277269.2:c.7622-41_7622-38del	NP_001264198.1:n.7622-41_7622-38del
NM_001292063.2:c.7586-41_7586-38del MANE Select	NP_001278992.1:n.7586-41_7586-38del