Canonical Allele Identifier: CA1563871

Gene: OTOF

Linked Data

• dbSNP Id: rs760018136
• ExAC: 2:26700001 GC / G
• gnomAD v2: 2-26700001-GC-G
• gnomAD v4: 2-26477133-GC-G
• MyVariant Identifiers: chr2:g.26700002del (hg19) ; chr2:g.26477134del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477136del , CM000664.2:g.26477136del	GRCh38
NC_000002.11:g.26700004del , CM000664.1:g.26700004del	GRCh37
NC_000002.10:g.26553508del	NCBI36
NG_009937.1:g.86565del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.2523+38del MANE Select	ENSP00000272371.2:n.2523+38del
ENST00000339598.8:c.282+38del MANE Plus Clinical	ENSP00000344521.3:n.282+38del
ENST00000402415.8:c.282+38del	ENSP00000383906.4:n.282+38del
ENST00000272371.6:c.2523+38del	ENSP00000272371.2:n.2523+38del
ENST00000338581.10:c.282+38del	ENSP00000345137.6:n.282+38del
ENST00000339598.7:c.282+38del	ENSP00000344521.3:n.282+38del
ENST00000402415.7:c.453+38del	ENSP00000383906.3:n.453+38del
ENST00000403946.7:c.2523+38del	ENSP00000385255.3:n.2523+38del
NM_001287489.1:c.2523+38del	NP_001274418.1:n.2523+38del
NM_004802.3:c.282+38del	NP_004793.2:n.282+38del
NM_194248.2:c.2523+38del	NP_919224.1:n.2523+38del
NM_194322.2:c.453+38del	NP_919303.1:n.453+38del
NM_194323.2:c.282+38del	NP_919304.1:n.282+38del
XM_005264644.2:c.2568+38del	XP_005264701.1:n.2568+38del
XM_011533185.1:c.2568+38del	XP_011531487.1:n.2568+38del
XM_017005338.1:c.2523+38del	XP_016860827.1:n.2523+38del
NM_001287489.2:c.2523+38del	NP_001274418.1:n.2523+38del
NM_004802.4:c.282+38del	NP_004793.2:n.282+38del
NM_194248.3:c.2523+38del MANE Select	NP_919224.1:n.2523+38del
NM_194322.3:c.453+38del	NP_919303.1:n.453+38del
NM_194323.3:c.282+38del MANE Plus Clinical	NP_919304.1:n.282+38del