Canonical Allele Identifier: CA767290222

Gene: OTOF

Linked Data

• dbSNP Id: rs1201569809
• gnomAD v3: 2-26482744-CGT-C
• gnomAD v4: 2-26482744-CGT-C
• MyVariant Identifiers: chr2:g.26705613_26705614del (hg19) ; chr2:g.26482745_26482746del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482750_26482751del , CM000664.2:g.26482750_26482751del	GRCh38
NC_000002.11:g.26705618_26705619del , CM000664.1:g.26705618_26705619del	GRCh37
NC_000002.10:g.26559122_26559123del	NCBI36
NG_009937.1:g.80953_80954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-154_1393-153del MANE Select	ENSP00000272371.2:n.1393-154_1393-153del
ENST00000272371.6:c.1393-154_1393-153del	ENSP00000272371.2:n.1393-154_1393-153del
ENST00000403946.7:c.1393-154_1393-153del	ENSP00000385255.3:n.1393-154_1393-153del
NM_001287489.1:c.1393-154_1393-153del	NP_001274418.1:n.1393-154_1393-153del
NM_194248.2:c.1393-154_1393-153del	NP_919224.1:n.1393-154_1393-153del
XM_005264644.2:c.1438-154_1438-153del	XP_005264701.1:n.1438-154_1438-153del
XM_011533185.1:c.1438-154_1438-153del	XP_011531487.1:n.1438-154_1438-153del
XM_017005338.1:c.1393-154_1393-153del	XP_016860827.1:n.1393-154_1393-153del
NM_001287489.2:c.1393-154_1393-153del	NP_001274418.1:n.1393-154_1393-153del
NM_194248.3:c.1393-154_1393-153del MANE Select	NP_919224.1:n.1393-154_1393-153del