Canonical Allele Identifier: CA2586968845

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2683859
• ClinVar RCV Id: RCV003484468

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482431_26482446del , CM000664.2:g.26482431_26482446del	GRCh38
NC_000002.11:g.26705299_26705314del , CM000664.1:g.26705299_26705314del	GRCh37
NC_000002.10:g.26558803_26558818del	NCBI36
NG_009937.1:g.81253_81268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1539_1554del MANE Select	ENSP00000272371.2:p.His513GlnfsTer20
ENST00000272371.6:c.1539_1554del	ENSP00000272371.2:p.His513GlnfsTer20
ENST00000403946.7:c.1539_1554del	ENSP00000385255.3:p.His513GlnfsTer20
NM_001287489.1:c.1539_1554del	NP_001274418.1:p.His513GlnfsTer20
NM_194248.2:c.1539_1554del	NP_919224.1:p.His513GlnfsTer20
XM_005264644.2:c.1584_1599del	XP_005264701.1:p.His528GlnfsTer20
XM_011533185.1:c.1584_1599del	XP_011531487.1:p.His528GlnfsTer20
XM_017005338.1:c.1539_1554del	XP_016860827.1:p.His513GlnfsTer20
NM_001287489.2:c.1539_1554del	NP_001274418.1:p.His513GlnfsTer20
NM_194248.3:c.1539_1554del MANE Select	NP_919224.1:p.His513GlnfsTer20