Canonical Allele Identifier: CA767283998

Gene: OTOF

Linked Data

• dbSNP Id: rs1457920804
• gnomAD v3: 2-26519016-GATAGC-G
• gnomAD v4: 2-26519016-GATAGC-G
• MyVariant Identifiers: chr2:g.26741885_26741889del (hg19) ; chr2:g.26519017_26519021del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26519019_26519023del , CM000664.2:g.26519019_26519023del	GRCh38
NC_000002.11:g.26741887_26741891del , CM000664.1:g.26741887_26741891del	GRCh37
NC_000002.10:g.26595391_26595395del	NCBI36
NG_009937.1:g.44678_44682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.316_320del MANE Select	ENSP00000272371.2:p.Ala106HisfsTer15
ENST00000272371.6:c.316_320del	ENSP00000272371.2:p.Ala106HisfsTer15
ENST00000403946.7:c.316_320del	ENSP00000385255.3:p.Ala106HisfsTer15
NM_001287489.1:c.316_320del	NP_001274418.1:p.Ala106HisfsTer15
NM_194248.2:c.316_320del	NP_919224.1:p.Ala106HisfsTer15
XM_005264644.2:c.316_320del	XP_005264701.1:p.Ala106HisfsTer15
XM_011533185.1:c.316_320del	XP_011531487.1:p.Ala106HisfsTer15
XM_017005338.1:c.316_320del	XP_016860827.1:p.Ala106HisfsTer15
NM_001287489.2:c.316_320del	NP_001274418.1:p.Ala106HisfsTer15
NM_194248.3:c.316_320del MANE Select	NP_919224.1:p.Ala106HisfsTer15