Canonical Allele Identifier: CA2580066188

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26463506_26463507del , CM000664.2:g.26463506_26463507del	GRCh38
NC_000002.11:g.26686374_26686375del , CM000664.1:g.26686374_26686375del	GRCh37
NC_000002.10:g.26539878_26539879del	NCBI36
NG_009937.1:g.100193_100194del

Transcript Alleles

HGVS	Amino-acid Change
NM_194248.3:c.5169_5170del MANE Select	NP_919224.1:p.Ile1724LeufsTer19
ENST00000272371.7:c.5169_5170del MANE Select	ENSP00000272371.2:p.Ile1724LeufsTer19
NM_194323.3:c.2868_2869del MANE Plus Clinical	NP_919304.1:p.Ile957LeufsTer19
ENST00000339598.8:c.2868_2869del MANE Plus Clinical	ENSP00000344521.3:p.Ile957LeufsTer19
NM_001287489.1:c.5169_5170del	NP_001274418.1:p.Ile1724LeufsTer19
NM_001287489.2:c.5169_5170del	NP_001274418.1:p.Ile1724LeufsTer19
NM_004802.3:c.2868_2869del	NP_004793.2:p.Ile957LeufsTer19
NM_004802.4:c.2868_2869del	NP_004793.2:p.Ile957LeufsTer19
NM_194248.2:c.5169_5170del	NP_919224.1:p.Ile1724LeufsTer19
NM_194322.2:c.3099_3100del	NP_919303.1:p.Ile1034LeufsTer19
NM_194322.3:c.3099_3100del	NP_919303.1:p.Ile1034LeufsTer19
NM_194323.2:c.2868_2869del	NP_919304.1:p.Ile957LeufsTer19
ENST00000272371.6:c.5169_5170del	ENSP00000272371.2:p.Ile1724LeufsTer19
ENST00000338581.10:c.2868_2869del	ENSP00000345137.6:p.Ile957LeufsTer19
ENST00000339598.7:c.2868_2869del	ENSP00000344521.3:p.Ile957LeufsTer19
ENST00000402415.7:c.3099_3100del	ENSP00000383906.3:p.Ile1034LeufsTer19
ENST00000402415.8:c.2928_2929del	ENSP00000383906.4:p.Ile977LeufsTer19
ENST00000403946.7:c.5169_5170del	ENSP00000385255.3:p.Ile1724LeufsTer19
XM_005264644.2:c.5154_5155del	XP_005264701.1:p.Ile1719LeufsTer19
XM_011533185.1:c.5214_5215del	XP_011531487.1:p.Ile1739LeufsTer19
XM_017005338.1:c.5109_5110del	XP_016860827.1:p.Ile1704LeufsTer19