Summary
Sequence
Protein Information
- Protein summary
- Domains & features
- Variants
- PDB 3D protein model
- AlphaFold predicted model
Genetic Variation
- Variant table
- Variant image
- Population comparison
- Comparison image
External References
- General identifiers
- Oligo probes
Supporting evidence
ID History
- Transcript history
- Protein history

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Transcript: ENSSSCT00000056076.2 OTOF-201

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Description

otoferlin [Source:VGNC Symbol;Acc:VGNC:91089]

Location

Primary_assembly 3: 112,478,027-112,581,100 forward strand.

About this transcript

This transcript has 47 exons, is annotated with 63 domains and features and is associated with 5281 variant alleles.

Gene

This transcript is a product of gene ENSSSCG00000037751.3 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	Flags
ENSSSCT00000055072.3	OTOF-202	7597	1997aa	ENSSSCP00000059037.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A0A287BS85	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, APPRIS P4: Where the APPRIS core modules are unable to choose a clear principal CDS and there is more than one variant with a distinct (but consecutive) CCDS identifiers, APPRIS selects the longest CCDS isoform as the principal variant. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P4,
ENSSSCT00000056076.2	OTOF-201	7390	1997aa	ENSSSCP00000047895.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	A0A287AUV7	APPRIS ALT1: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that is conserved in at least three tested species. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS ALT1,

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Protein summary

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Protein domains for ENSSSCP00000047895.2

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