Canonical Allele Identifier: CA531761766

Gene: OTOF

Linked Data

• dbSNP Id: rs1428375994
• gnomAD v2: 2-26683101-AG-A
• gnomAD v4: 2-26460233-AG-A
• MyVariant Identifiers: chr2:g.26683102del (hg19) ; chr2:g.26460234del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460235del , CM000664.2:g.26460235del	GRCh38
NC_000002.11:g.26683103del , CM000664.1:g.26683103del	GRCh37
NC_000002.10:g.26536607del	NCBI36
NG_009937.1:g.103465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5814-29del MANE Select	ENSP00000272371.2:n.5814-29del
ENST00000339598.8:c.3512+413del MANE Plus Clinical	ENSP00000344521.3:n.3512+413del
ENST00000402415.8:c.3573-29del	ENSP00000383906.4:n.3573-29del
ENST00000272371.6:c.5814-29del	ENSP00000272371.2:n.5814-29del
ENST00000338581.10:c.3513-29del	ENSP00000345137.6:n.3513-29del
ENST00000339598.7:c.3512+413del	ENSP00000344521.3:n.3512+413del
ENST00000402415.7:c.3744-29del	ENSP00000383906.3:n.3744-29del
ENST00000403946.7:c.5813+413del	ENSP00000385255.3:n.5813+413del
NM_001287489.1:c.5813+413del	NP_001274418.1:n.5813+413del
NM_004802.3:c.3513-29del	NP_004793.2:n.3513-29del
NM_194248.2:c.5814-29del	NP_919224.1:n.5814-29del
NM_194322.2:c.3744-29del	NP_919303.1:n.3744-29del
NM_194323.2:c.3512+413del	NP_919304.1:n.3512+413del
XM_005264644.2:c.5798+413del	XP_005264701.1:n.5798+413del
XM_011533185.1:c.5858+413del	XP_011531487.1:n.5858+413del
XM_017005338.1:c.5754-29del	XP_016860827.1:n.5754-29del
NM_001287489.2:c.5813+413del	NP_001274418.1:n.5813+413del
NM_004802.4:c.3513-29del	NP_004793.2:n.3513-29del
NM_194248.3:c.5814-29del MANE Select	NP_919224.1:n.5814-29del
NM_194322.3:c.3744-29del	NP_919303.1:n.3744-29del
NM_194323.3:c.3512+413del MANE Plus Clinical	NP_919304.1:n.3512+413del