Canonical Allele Identifier: CA44400764

Gene: OTOF

Linked Data

• dbSNP Id: rs950722507
• gnomAD v2: 2-26703001-GCCTAGGCCTGAAGCCCCCGTGGGCCCAGCACTCA-G
• gnomAD v3: 2-26480133-GCCTAGGCCTGAAGCCCCCGTGGGCCCAGCACTCA-G
• gnomAD v4: 2-26480133-GCCTAGGCCTGAAGCCCCCGTGGGCCCAGCACTCA-G
• MyVariant Identifiers: chr2:g.26703002_26703035del (hg19) ; chr2:g.26480134_26480167del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480142_26480175del , CM000664.2:g.26480142_26480175del	GRCh38
NC_000002.11:g.26703010_26703043del , CM000664.1:g.26703010_26703043del	GRCh37
NC_000002.10:g.26556514_26556547del	NCBI36
NG_009937.1:g.83532_83565del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.1912+36_1912+69del MANE Select	ENSP00000272371.2:n.1912+36_1912+69del
ENST00000272371.6:c.1912+36_1912+69del	ENSP00000272371.2:n.1912+36_1912+69del
ENST00000403946.7:c.1912+36_1912+69del	ENSP00000385255.3:n.1912+36_1912+69del
NM_001287489.1:c.1912+36_1912+69del	NP_001274418.1:n.1912+36_1912+69del
NM_194248.2:c.1912+36_1912+69del	NP_919224.1:n.1912+36_1912+69del
XM_005264644.2:c.1957+36_1957+69del	XP_005264701.1:n.1957+36_1957+69del
XM_011533185.1:c.1957+36_1957+69del	XP_011531487.1:n.1957+36_1957+69del
XM_017005338.1:c.1912+36_1912+69del	XP_016860827.1:n.1912+36_1912+69del
NM_001287489.2:c.1912+36_1912+69del	NP_001274418.1:n.1912+36_1912+69del
NM_194248.3:c.1912+36_1912+69del MANE Select	NP_919224.1:n.1912+36_1912+69del