Canonical Allele Identifier: CA1564176

Gene: OTOF

Linked Data

• ClinVar Variation Id: 497108
• ClinVar RCV Id: RCV000593014
• dbSNP Id: rs755835793
• ExAC: 2:26703643 T / TG
• gnomAD v2: 2-26703643-T-TG
• gnomAD v3: 2-26480775-T-TG
• gnomAD v4: 2-26480775-T-TG
• MyVariant Identifiers: chr2:g.26703644dup (hg19) ; chr2:g.26703643_26703644insG (hg19) ; chr2:g.26480776dup (hg38) ; chr2:g.26480775_26480776insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480779dup , CM000664.2:g.26480779dup	GRCh38
NC_000002.11:g.26703647dup , CM000664.1:g.26703647dup	GRCh37
NC_000002.10:g.26557151dup	NCBI36
NG_009937.1:g.82923dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.1803+10dup MANE Select	ENSP00000272371.2:n.1803+10dup
ENST00000272371.6:c.1803+10dup	ENSP00000272371.2:n.1803+10dup
ENST00000403946.7:c.1803+10dup	ENSP00000385255.3:n.1803+10dup
NM_001287489.1:c.1803+10dup	NP_001274418.1:n.1803+10dup
NM_194248.2:c.1803+10dup	NP_919224.1:n.1803+10dup
XM_005264644.2:c.1848+10dup	XP_005264701.1:n.1848+10dup
XM_011533185.1:c.1848+10dup	XP_011531487.1:n.1848+10dup
XM_017005338.1:c.1803+10dup	XP_016860827.1:n.1803+10dup
NM_001287489.2:c.1803+10dup	NP_001274418.1:n.1803+10dup
NM_194248.3:c.1803+10dup MANE Select	NP_919224.1:n.1803+10dup