Canonical Allele Identifier: CA597904992

Gene: OTOG

Linked Data

• dbSNP Id: rs1317276775
• gnomAD v2: 11-17633925-ACC-A
• gnomAD v4: 11-17612378-ACC-A
• MyVariant Identifiers: chr11:g.17633926_17633927del (hg19) ; chr11:g.17612379_17612380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612381_17612382del , CM000673.2:g.17612381_17612382del	GRCh38
NC_000011.9:g.17633928_17633929del , CM000673.1:g.17633928_17633929del	GRCh37
NC_000011.8:g.17590504_17590505del	NCBI36
NG_033191.1:g.70009_70010del
NG_033191.2:g.70009_70010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6328+51_6328+52del	ENSP00000382323.2:n.6328+51_6328+52del
ENST00000399397.6:c.6292+51_6292+52del MANE Select	ENSP00000382329.2:n.6292+51_6292+52del
ENST00000342528.2:c.3346+51_3346+52del	ENSP00000341666.2:n.3346+51_3346+52del
ENST00000399391.6:c.6328+51_6328+52del	ENSP00000382323.2:n.6328+51_6328+52del
ENST00000399397.5:c.6292+51_6292+52del	ENSP00000382329.2:n.6292+51_6292+52del
NM_001277269.1:c.6328+51_6328+52del	NP_001264198.1:n.6328+51_6328+52del
NM_001292063.1:c.6292+51_6292+52del	NP_001278992.1:n.6292+51_6292+52del
NM_001277269.2:c.6328+51_6328+52del	NP_001264198.1:n.6328+51_6328+52del
NM_001292063.2:c.6292+51_6292+52del MANE Select	NP_001278992.1:n.6292+51_6292+52del