Canonical Allele Identifier: CA767288938

Gene: OTOF

Linked Data

• dbSNP Id: rs1487605769
• MyVariant Identifiers: chr2:g.26703863_26703864del (hg19) ; chr2:g.26480995_26480996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480998_26480999del , CM000664.2:g.26480998_26480999del	GRCh38
NC_000002.11:g.26703866_26703867del , CM000664.1:g.26703866_26703867del	GRCh37
NC_000002.10:g.26557370_26557371del	NCBI36
NG_009937.1:g.82703_82704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1593_1594del MANE Select	ENSP00000272371.2:p.Leu532GlyfsTer13
ENST00000272371.6:c.1593_1594del	ENSP00000272371.2:p.Leu532GlyfsTer13
ENST00000403946.7:c.1593_1594del	ENSP00000385255.3:p.Leu532GlyfsTer13
NM_001287489.1:c.1593_1594del	NP_001274418.1:p.Leu532GlyfsTer13
NM_194248.2:c.1593_1594del	NP_919224.1:p.Leu532GlyfsTer13
XM_005264644.2:c.1638_1639del	XP_005264701.1:p.Leu547GlyfsTer13
XM_011533185.1:c.1638_1639del	XP_011531487.1:p.Leu547GlyfsTer13
XM_017005338.1:c.1593_1594del	XP_016860827.1:p.Leu532GlyfsTer13
NM_001287489.2:c.1593_1594del	NP_001274418.1:p.Leu532GlyfsTer13
NM_194248.3:c.1593_1594del MANE Select	NP_919224.1:p.Leu532GlyfsTer13