Canonical Allele Identifier: CA44403138

Gene: OTOF

Linked Data

• dbSNP Id: rs901258755
• gnomAD v3: 2-26484592-CG-C
• gnomAD v4: 2-26484592-CG-C
• MyVariant Identifiers: chr2:g.26707461del (hg19) ; chr2:g.26484593del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26484596del , CM000664.2:g.26484596del	GRCh38
NC_000002.11:g.26707464del , CM000664.1:g.26707464del	GRCh37
NC_000002.10:g.26560968del	NCBI36
NG_009937.1:g.79106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1086del MANE Select	ENSP00000272371.2:p.Asp363MetfsTer7
ENST00000272371.6:c.1086del	ENSP00000272371.2:p.Asp363MetfsTer7
ENST00000403946.7:c.1086del	ENSP00000385255.3:p.Asp363MetfsTer7
NM_001287489.1:c.1086del	NP_001274418.1:p.Asp363MetfsTer7
NM_194248.2:c.1086del	NP_919224.1:p.Asp363MetfsTer7
XM_005264644.2:c.1131del	XP_005264701.1:p.Asp378MetfsTer7
XM_011533185.1:c.1131del	XP_011531487.1:p.Asp378MetfsTer7
XM_017005338.1:c.1086del	XP_016860827.1:p.Asp363MetfsTer7
NM_001287489.2:c.1086del	NP_001274418.1:p.Asp363MetfsTer7
NM_194248.3:c.1086del MANE Select	NP_919224.1:p.Asp363MetfsTer7