Canonical Allele Identifier: CA2576699500

Gene: OTOF

Linked Data

• gnomAD v4: 2-26477249-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477250_26477251del , CM000664.2:g.26477250_26477251del	GRCh38
NC_000002.11:g.26700118_26700119del , CM000664.1:g.26700118_26700119del	GRCh37
NC_000002.10:g.26553622_26553623del	NCBI36
NG_009937.1:g.86448_86449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2444_2445del MANE Select	ENSP00000272371.2:p.Gln815ArgfsTer?
ENST00000339598.8:c.203_204del MANE Plus Clinical	ENSP00000344521.3:p.Gln68ArgfsTer?
ENST00000402415.8:c.203_204del	ENSP00000383906.4:p.Gln68ArgfsTer?
ENST00000272371.6:c.2444_2445del	ENSP00000272371.2:p.Gln815ArgfsTer?
ENST00000338581.10:c.203_204del	ENSP00000345137.6:p.Gln68ArgfsTer?
ENST00000339598.7:c.203_204del	ENSP00000344521.3:p.Gln68ArgfsTer?
ENST00000402415.7:c.374_375del	ENSP00000383906.3:p.Gln125ArgfsTer?
ENST00000403946.7:c.2444_2445del	ENSP00000385255.3:p.Gln815ArgfsTer?
NM_001287489.1:c.2444_2445del	NP_001274418.1:p.Gln815ArgfsTer?
NM_004802.3:c.203_204del	NP_004793.2:p.Gln68ArgfsTer?
NM_194248.2:c.2444_2445del	NP_919224.1:p.Gln815ArgfsTer?
NM_194322.2:c.374_375del	NP_919303.1:p.Gln125ArgfsTer?
NM_194323.2:c.203_204del	NP_919304.1:p.Gln68ArgfsTer?
XM_005264644.2:c.2489_2490del	XP_005264701.1:p.Gln830ArgfsTer?
XM_011533185.1:c.2489_2490del	XP_011531487.1:p.Gln830ArgfsTer?
XM_017005338.1:c.2444_2445del	XP_016860827.1:p.Gln815ArgfsTer?
NM_001287489.2:c.2444_2445del	NP_001274418.1:p.Gln815ArgfsTer?
NM_004802.4:c.203_204del	NP_004793.2:p.Gln68ArgfsTer?
NM_194248.3:c.2444_2445del MANE Select	NP_919224.1:p.Gln815ArgfsTer?
NM_194322.3:c.374_375del	NP_919303.1:p.Gln125ArgfsTer?
NM_194323.3:c.203_204del MANE Plus Clinical	NP_919304.1:p.Gln68ArgfsTer?