Canonical Allele Identifier: CA2658238858

Gene: OTOF

Linked Data

• dbSNP Id: rs2148058687
• gnomAD v4: 2-26482624-GGCATGTGTGTGTGAGTGGGTGCATGTGTGTGTGTGTGAGTGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482634_26482677del , CM000664.2:g.26482634_26482677del	GRCh38
NC_000002.11:g.26705502_26705545del , CM000664.1:g.26705502_26705545del	GRCh37
NC_000002.10:g.26559006_26559049del	NCBI36
NG_009937.1:g.81031_81074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-76_1393-33del MANE Select	ENSP00000272371.2:n.1393-76_1393-33del
ENST00000272371.6:c.1393-76_1393-33del	ENSP00000272371.2:n.1393-76_1393-33del
ENST00000403946.7:c.1393-76_1393-33del	ENSP00000385255.3:n.1393-76_1393-33del
NM_001287489.1:c.1393-76_1393-33del	NP_001274418.1:n.1393-76_1393-33del
NM_194248.2:c.1393-76_1393-33del	NP_919224.1:n.1393-76_1393-33del
XM_005264644.2:c.1438-76_1438-33del	XP_005264701.1:n.1438-76_1438-33del
XM_011533185.1:c.1438-76_1438-33del	XP_011531487.1:n.1438-76_1438-33del
XM_017005338.1:c.1393-76_1393-33del	XP_016860827.1:n.1393-76_1393-33del
NM_001287489.2:c.1393-76_1393-33del	NP_001274418.1:n.1393-76_1393-33del
NM_194248.3:c.1393-76_1393-33del MANE Select	NP_919224.1:n.1393-76_1393-33del