Canonical Allele Identifier: CA16617523

Gene: OTOF

Linked Data

• ClinVar Variation Id: 421815
• ClinVar RCV Id: RCV000479222
• dbSNP Id: rs1064795376
• gnomAD v2: 2-26705443-CTGCACTGAAGTCT-C
• gnomAD v4: 2-26482575-CTGCACTGAAGTCT-C
• MyVariant Identifiers: chr2:g.26705444_26705456del (hg19) ; chr2:g.26482576_26482588del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482579_26482591del , CM000664.2:g.26482579_26482591del	GRCh38
NC_000002.11:g.26705447_26705459del , CM000664.1:g.26705447_26705459del	GRCh37
NC_000002.10:g.26558951_26558963del	NCBI36
NG_009937.1:g.81111_81123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1397_1409del MANE Select	ENSP00000272371.2:p.Lys466ArgfsTer26
ENST00000272371.6:c.1397_1409del	ENSP00000272371.2:p.Lys466ArgfsTer26
ENST00000403946.7:c.1397_1409del	ENSP00000385255.3:p.Lys466ArgfsTer26
NM_001287489.1:c.1397_1409del	NP_001274418.1:p.Lys466ArgfsTer26
NM_194248.2:c.1397_1409del	NP_919224.1:p.Lys466ArgfsTer26
XM_005264644.2:c.1442_1454del	XP_005264701.1:p.Lys481ArgfsTer26
XM_011533185.1:c.1442_1454del	XP_011531487.1:p.Lys481ArgfsTer26
XM_017005338.1:c.1397_1409del	XP_016860827.1:p.Lys466ArgfsTer26
NM_001287489.2:c.1397_1409del	NP_001274418.1:p.Lys466ArgfsTer26
NM_194248.3:c.1397_1409del MANE Select	NP_919224.1:p.Lys466ArgfsTer26