Canonical Allele Identifier: CA2499223395

Gene: OTOA

Linked Data

• ClinVar Variation Id: 1194317
• ClinVar RCV Id: RCV001557004
• dbSNP Id: rs2141688617

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710004del , CM000678.2:g.21710004del	GRCh38
NC_000016.9:g.21721325del , CM000678.1:g.21721325del	GRCh37
NC_000016.8:g.21628826del	NCBI36
NG_012973.1:g.36491del
NG_012973.2:g.50872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1221del	ENSP00000373610.3:p.Glu408ArgfsTer?
ENST00000646100.2:c.1221del MANE Select	ENSP00000496564.2:p.Glu408ArgfsTer?
ENST00000647277.1:c.*35del	ENSP00000495594.1:n.*35del
ENST00000286149.8:c.1263del	ENSP00000286149.4:p.Glu422ArgfsTer?
ENST00000388956.8:c.984del	ENSP00000373608.4:p.Glu329ArgfsTer?
ENST00000388957.3:c.249del	ENSP00000373609.3:p.Glu84ArgfsTer?
ENST00000388958.7:c.1221del	ENSP00000373610.3:p.Glu408ArgfsTer?
ENST00000563871.5:n.441del
NM_001161683.1:c.984del	NP_001155155.1:p.Glu329ArgfsTer?
NM_144672.3:c.1221del	NP_653273.3:p.Glu408ArgfsTer?
NM_170664.2:c.249del	NP_733764.1:p.Glu84ArgfsTer?
XM_011545747.1:c.1221del	XP_011544049.1:p.Glu408ArgfsTer?
XM_011545748.1:c.90del	XP_011544050.1:p.Glu31ArgfsTer?
NM_144672.4:c.1221del MANE Select	NP_653273.3:p.Glu408ArgfsTer?
XM_011545748.2:c.90del	XP_011544050.2:p.Glu31ArgfsTer?
XR_002957775.1:n.316del
NM_001161683.2:c.984del	NP_001155155.1:p.Glu329ArgfsTer?
NM_170664.3:c.249del	NP_733764.1:p.Glu84ArgfsTer?