Canonical Allele Identifier: CA767279285

Gene: OTOF

Linked Data

• dbSNP Id: rs1159596271
• gnomAD v3: 2-26477123-CAG-C
• gnomAD v4: 2-26477123-CAG-C
• MyVariant Identifiers: chr2:g.26699992_26699993del (hg19) ; chr2:g.26477124_26477125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477128_26477129del , CM000664.2:g.26477128_26477129del	GRCh38
NC_000002.11:g.26699996_26699997del , CM000664.1:g.26699996_26699997del	GRCh37
NC_000002.10:g.26553500_26553501del	NCBI36
NG_009937.1:g.86574_86575del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.2523+47_2523+48del MANE Select	ENSP00000272371.2:n.2523+47_2523+48del
ENST00000339598.8:c.282+47_282+48del MANE Plus Clinical	ENSP00000344521.3:n.282+47_282+48del
ENST00000402415.8:c.282+47_282+48del	ENSP00000383906.4:n.282+47_282+48del
ENST00000272371.6:c.2523+47_2523+48del	ENSP00000272371.2:n.2523+47_2523+48del
ENST00000338581.10:c.282+47_282+48del	ENSP00000345137.6:n.282+47_282+48del
ENST00000339598.7:c.282+47_282+48del	ENSP00000344521.3:n.282+47_282+48del
ENST00000402415.7:c.453+47_453+48del	ENSP00000383906.3:n.453+47_453+48del
ENST00000403946.7:c.2523+47_2523+48del	ENSP00000385255.3:n.2523+47_2523+48del
NM_001287489.1:c.2523+47_2523+48del	NP_001274418.1:n.2523+47_2523+48del
NM_004802.3:c.282+47_282+48del	NP_004793.2:n.282+47_282+48del
NM_194248.2:c.2523+47_2523+48del	NP_919224.1:n.2523+47_2523+48del
NM_194322.2:c.453+47_453+48del	NP_919303.1:n.453+47_453+48del
NM_194323.2:c.282+47_282+48del	NP_919304.1:n.282+47_282+48del
XM_005264644.2:c.2568+47_2568+48del	XP_005264701.1:n.2568+47_2568+48del
XM_011533185.1:c.2568+47_2568+48del	XP_011531487.1:n.2568+47_2568+48del
XM_017005338.1:c.2523+47_2523+48del	XP_016860827.1:n.2523+47_2523+48del
NM_001287489.2:c.2523+47_2523+48del	NP_001274418.1:n.2523+47_2523+48del
NM_004802.4:c.282+47_282+48del	NP_004793.2:n.282+47_282+48del
NM_194248.3:c.2523+47_2523+48del MANE Select	NP_919224.1:n.2523+47_2523+48del
NM_194322.3:c.453+47_453+48del	NP_919303.1:n.453+47_453+48del
NM_194323.3:c.282+47_282+48del MANE Plus Clinical	NP_919304.1:n.282+47_282+48del