Canonical Allele Identifier: CA1028609677

Gene: OTOF

Linked Data

• gnomAD v3: 2-26480964-G-GT
• gnomAD v4: 2-26480964-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480964_26480965insT , CM000664.2:g.26480964_26480965insT	GRCh38
NC_000002.11:g.26703832_26703833insT , CM000664.1:g.26703832_26703833insT	GRCh37
NC_000002.10:g.26557336_26557337insT	NCBI36
NG_009937.1:g.82734_82735insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1624_1625insA MANE Select	ENSP00000272371.2:p.Ser542TyrfsTer4
ENST00000272371.6:c.1624_1625insA	ENSP00000272371.2:p.Ser542TyrfsTer4
ENST00000403946.7:c.1624_1625insA	ENSP00000385255.3:p.Ser542TyrfsTer4
NM_001287489.1:c.1624_1625insA	NP_001274418.1:p.Ser542TyrfsTer4
NM_194248.2:c.1624_1625insA	NP_919224.1:p.Ser542TyrfsTer4
XM_005264644.2:c.1669_1670insA	XP_005264701.1:p.Ser557TyrfsTer4
XM_011533185.1:c.1669_1670insA	XP_011531487.1:p.Ser557TyrfsTer4
XM_017005338.1:c.1624_1625insA	XP_016860827.1:p.Ser542TyrfsTer4
NM_001287489.2:c.1624_1625insA	NP_001274418.1:p.Ser542TyrfsTer4
NM_194248.3:c.1624_1625insA MANE Select	NP_919224.1:p.Ser542TyrfsTer4