Canonical Allele Identifier: CA531761953

Gene: OTOF

Linked Data

• dbSNP Id: rs1455688493
• gnomAD v2: 2-26696330-TCAGGGACGACTGCACCCCCTTCCCTGCACACTCGATGTC-T
• gnomAD v4: 2-26473462-TCAGGGACGACTGCACCCCCTTCCCTGCACACTCGATGTC-T
• MyVariant Identifiers: chr2:g.26696331_26696369del (hg19) ; chr2:g.26473463_26473501del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26473465_26473503del , CM000664.2:g.26473465_26473503del	GRCh38
NC_000002.11:g.26696333_26696371del , CM000664.1:g.26696333_26696371del	GRCh37
NC_000002.10:g.26549837_26549875del	NCBI36
NG_009937.1:g.90198_90236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.3475_3513del MANE Select	ENSP00000272371.2:p.Asp1159_Leu1171del
ENST00000339598.8:c.1234_1272del MANE Plus Clinical	ENSP00000344521.3:p.Asp412_Leu424del
ENST00000402415.8:c.1234_1272del	ENSP00000383906.4:p.Asp412_Leu424del
ENST00000272371.6:c.3475_3513del	ENSP00000272371.2:p.Asp1159_Leu1171del
ENST00000338581.10:c.1234_1272del	ENSP00000345137.6:p.Asp412_Leu424del
ENST00000339598.7:c.1234_1272del	ENSP00000344521.3:p.Asp412_Leu424del
ENST00000402415.7:c.1405_1443del	ENSP00000383906.3:p.Asp469_Leu481del
ENST00000403946.7:c.3475_3513del	ENSP00000385255.3:p.Asp1159_Leu1171del
ENST00000426958.1:c.41_79del
NM_001287489.1:c.3475_3513del	NP_001274418.1:p.Asp1159_Leu1171del
NM_004802.3:c.1234_1272del	NP_004793.2:p.Asp412_Leu424del
NM_194248.2:c.3475_3513del	NP_919224.1:p.Asp1159_Leu1171del
NM_194322.2:c.1405_1443del	NP_919303.1:p.Asp469_Leu481del
NM_194323.2:c.1234_1272del	NP_919304.1:p.Asp412_Leu424del
XM_005264644.2:c.3520_3558del	XP_005264701.1:p.Asp1174_Leu1186del
XM_011533185.1:c.3520_3558del	XP_011531487.1:p.Asp1174_Leu1186del
XM_017005338.1:c.3475_3513del	XP_016860827.1:p.Asp1159_Leu1171del
NM_001287489.2:c.3475_3513del	NP_001274418.1:p.Asp1159_Leu1171del
NM_004802.4:c.1234_1272del	NP_004793.2:p.Asp412_Leu424del
NM_194248.3:c.3475_3513del MANE Select	NP_919224.1:p.Asp1159_Leu1171del
NM_194322.3:c.1405_1443del	NP_919303.1:p.Asp469_Leu481del
NM_194323.3:c.1234_1272del MANE Plus Clinical	NP_919304.1:p.Asp412_Leu424del