Canonical Allele Identifier: CA1239824018
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460093_26460094delinsGC , CM000664.2:g.26460093_26460094delinsGC GRCh38
NC_000002.11:g.26682961_26682962delinsGC , CM000664.1:g.26682961_26682962delinsGC GRCh37
NC_000002.10:g.26536465_26536466delinsGC NCBI36
NG_009937.1:g.103605_103606delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.5925_5926delinsGC MANE Select ENSP00000272371.2:p.Leu1975=
ENST00000339598.8:c.3512+553_3512+554delinsGC MANE Plus Clinical ENSP00000344521.3:n.3512+553_3512+554delinsGC
ENST00000402415.8:c.3684_3685delinsGC ENSP00000383906.4:p.Leu1228=
ENST00000272371.6:c.5925_5926delinsGC ENSP00000272371.2:p.Leu1975=
ENST00000338581.10:c.3624_3625delinsGC ENSP00000345137.6:p.Leu1208=
ENST00000339598.7:c.3512+553_3512+554delinsGC ENSP00000344521.3:n.3512+553_3512+554delinsGC
ENST00000402415.7:c.3855_3856delinsGC ENSP00000383906.3:p.Leu1285=
ENST00000403946.7:c.5813+553_5813+554delinsGC ENSP00000385255.3:n.5813+553_5813+554delinsGC
NM_001287489.1:c.5813+553_5813+554delinsGC NP_001274418.1:n.5813+553_5813+554delinsGC
NM_004802.3:c.3624_3625delinsGC NP_004793.2:p.Leu1208=
NM_194248.2:c.5925_5926delinsGC NP_919224.1:p.Leu1975=
NM_194322.2:c.3855_3856delinsGC NP_919303.1:p.Leu1285=
NM_194323.2:c.3512+553_3512+554delinsGC NP_919304.1:n.3512+553_3512+554delinsGC
XM_005264644.2:c.5798+553_5798+554delinsGC XP_005264701.1:n.5798+553_5798+554delinsGC
XM_011533185.1:c.5858+553_5858+554delinsGC XP_011531487.1:n.5858+553_5858+554delinsGC
XM_017005338.1:c.5865_5866delinsGC XP_016860827.1:p.Leu1955=
NM_001287489.2:c.5813+553_5813+554delinsGC NP_001274418.1:n.5813+553_5813+554delinsGC
NM_004802.4:c.3624_3625delinsGC NP_004793.2:p.Leu1208=
NM_194248.3:c.5925_5926delinsGC MANE Select NP_919224.1:p.Leu1975=
NM_194322.3:c.3855_3856delinsGC NP_919303.1:p.Leu1285=
NM_194323.3:c.3512+553_3512+554delinsGC MANE Plus Clinical NP_919304.1:n.3512+553_3512+554delinsGC