Canonical Allele Identifier: CA1564330

Gene: OTOF

Linked Data

• dbSNP Id: rs397515581
• ExAC: 2:26706485 C / CG
• gnomAD v2: 2-26706485-C-CG
• gnomAD v4: 2-26483617-C-CG
• MyVariant Identifiers: chr2:g.26706485_26706486insG (hg19) ; chr2:g.26483617_26483618insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26483623dup , CM000664.2:g.26483623dup	GRCh38
NC_000002.11:g.26706491dup , CM000664.1:g.26706491dup	GRCh37
NC_000002.10:g.26559995dup	NCBI36
NG_009937.1:g.80081dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.1236dup MANE Select	ENSP00000272371.2:p.Glu413ArgfsTer?
ENST00000272371.6:c.1236dup	ENSP00000272371.2:p.Glu413ArgfsTer?
ENST00000403946.7:c.1236dup	ENSP00000385255.3:p.Glu413ArgfsTer?
NM_001287489.1:c.1236dup	NP_001274418.1:p.Glu413ArgfsTer?
NM_194248.2:c.1236dup	NP_919224.1:p.Glu413ArgfsTer?
XM_005264644.2:c.1281dup	XP_005264701.1:p.Glu428ArgfsTer?
XM_011533185.1:c.1281dup	XP_011531487.1:p.Glu428ArgfsTer?
XM_017005338.1:c.1236dup	XP_016860827.1:p.Glu413ArgfsTer?
NM_001287489.2:c.1236dup	NP_001274418.1:p.Glu413ArgfsTer?
NM_194248.3:c.1236dup MANE Select	NP_919224.1:p.Glu413ArgfsTer?