Canonical Allele Identifier: CA935537309

Gene: OTOG

Linked Data

• dbSNP Id: rs1853583805
• gnomAD v3: 11-17612404-CTG-C
• gnomAD v4: 11-17612404-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612410_17612411del , CM000673.2:g.17612410_17612411del	GRCh38
NC_000011.9:g.17633957_17633958del , CM000673.1:g.17633957_17633958del	GRCh37
NC_000011.8:g.17590533_17590534del	NCBI36
NG_033191.1:g.70038_70039del
NG_033191.2:g.70038_70039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6328+80_6328+81del	ENSP00000382323.2:n.6328+80_6328+81del
ENST00000399397.6:c.6292+80_6292+81del MANE Select	ENSP00000382329.2:n.6292+80_6292+81del
ENST00000342528.2:c.3346+80_3346+81del	ENSP00000341666.2:n.3346+80_3346+81del
ENST00000399391.6:c.6328+80_6328+81del	ENSP00000382323.2:n.6328+80_6328+81del
ENST00000399397.5:c.6292+80_6292+81del	ENSP00000382329.2:n.6292+80_6292+81del
NM_001277269.1:c.6328+80_6328+81del	NP_001264198.1:n.6328+80_6328+81del
NM_001292063.1:c.6292+80_6292+81del	NP_001278992.1:n.6292+80_6292+81del
NM_001277269.2:c.6328+80_6328+81del	NP_001264198.1:n.6328+80_6328+81del
NM_001292063.2:c.6292+80_6292+81del MANE Select	NP_001278992.1:n.6292+80_6292+81del