Canonical Allele Identifier: CA2739274166

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2807727
• ClinVar RCV Id: RCV003684474

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460188_26460208del , CM000664.2:g.26460188_26460208del	GRCh38
NC_000002.11:g.26683056_26683076del , CM000664.1:g.26683056_26683076del	GRCh37
NC_000002.10:g.26536560_26536580del	NCBI36
NG_009937.1:g.103493_103513del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5814-1_5833del
ENST00000339598.8:c.3512+441_3512+461del MANE Plus Clinical	ENSP00000344521.3:n.3512+441_3512+461del
ENST00000402415.8:c.3573-1_3592del
ENST00000272371.6:c.5814-1_5833del
ENST00000338581.10:c.3513-1_3532del
ENST00000339598.7:c.3512+441_3512+461del	ENSP00000344521.3:n.3512+441_3512+461del
ENST00000402415.7:c.3744-1_3763del
ENST00000403946.7:c.5813+441_5813+461del	ENSP00000385255.3:n.5813+441_5813+461del
NM_001287489.1:c.5813+441_5813+461del	NP_001274418.1:n.5813+441_5813+461del
NM_004802.3:c.3513-1_3532del
NM_194248.2:c.5814-1_5833del
NM_194322.2:c.3744-1_3763del
NM_194323.2:c.3512+441_3512+461del	NP_919304.1:n.3512+441_3512+461del
XM_005264644.2:c.5798+441_5798+461del	XP_005264701.1:n.5798+441_5798+461del
XM_011533185.1:c.5858+441_5858+461del	XP_011531487.1:n.5858+441_5858+461del
XM_017005338.1:c.5754-1_5773del
NM_001287489.2:c.5813+441_5813+461del	NP_001274418.1:n.5813+441_5813+461del
NM_004802.4:c.3513-1_3532del
NM_194248.3:c.5814-1_5833del
NM_194322.3:c.3744-1_3763del
NM_194323.3:c.3512+441_3512+461del MANE Plus Clinical	NP_919304.1:n.3512+441_3512+461del