Canonical Allele Identifier: CA1028610758

Gene: OTOF

Linked Data

• gnomAD v3: 2-26482818-TGC-T
• gnomAD v4: 2-26482818-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482819_26482820del , CM000664.2:g.26482819_26482820del	GRCh38
NC_000002.11:g.26705687_26705688del , CM000664.1:g.26705687_26705688del	GRCh37
NC_000002.10:g.26559191_26559192del	NCBI36
NG_009937.1:g.80879_80880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-228_1393-227del MANE Select	ENSP00000272371.2:n.1393-228_1393-227del
ENST00000272371.6:c.1393-228_1393-227del	ENSP00000272371.2:n.1393-228_1393-227del
ENST00000403946.7:c.1393-228_1393-227del	ENSP00000385255.3:n.1393-228_1393-227del
NM_001287489.1:c.1393-228_1393-227del	NP_001274418.1:n.1393-228_1393-227del
NM_194248.2:c.1393-228_1393-227del	NP_919224.1:n.1393-228_1393-227del
XM_005264644.2:c.1438-228_1438-227del	XP_005264701.1:n.1438-228_1438-227del
XM_011533185.1:c.1438-228_1438-227del	XP_011531487.1:n.1438-228_1438-227del
XM_017005338.1:c.1393-228_1393-227del	XP_016860827.1:n.1393-228_1393-227del
NM_001287489.2:c.1393-228_1393-227del	NP_001274418.1:n.1393-228_1393-227del
NM_194248.3:c.1393-228_1393-227del MANE Select	NP_919224.1:n.1393-228_1393-227del