Canonical Allele Identifier: CA345137
Community Standard Title: NM_194248.3(OTOF):c.5410_5412del (p.Glu1804del)
Gene: OTOF HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26461821_26461823del , CM000664.2:g.26461821_26461823del GRCh38
NC_000002.11:g.26684689_26684691del , CM000664.1:g.26684689_26684691del GRCh37
NC_000002.10:g.26538193_26538195del NCBI36
NG_009937.1:g.101880_101882del

Transcript Alleles

HGVS Amino-acid Change
NM_194248.3:c.5410_5412del MANE Select NP_919224.1:p.Glu1804del
ENST00000272371.7:c.5410_5412del MANE Select ENSP00000272371.2:p.Glu1804del
NM_194323.3:c.3109_3111del MANE Plus Clinical NP_919304.1:p.Glu1037del
ENST00000339598.8:c.3109_3111del MANE Plus Clinical ENSP00000344521.3:p.Glu1037del
NM_001287489.1:c.5410_5412del NP_001274418.1:p.Glu1804del
NM_001287489.2:c.5410_5412del NP_001274418.1:p.Glu1804del
NM_004802.3:c.3109_3111del NP_004793.2:p.Glu1037del
NM_004802.4:c.3109_3111del NP_004793.2:p.Glu1037del
NM_194248.2:c.5410_5412del NP_919224.1:p.Glu1804del
NM_194322.2:c.3340_3342del NP_919303.1:p.Glu1114del
NM_194322.3:c.3340_3342del NP_919303.1:p.Glu1114del
NM_194323.2:c.3109_3111del NP_919304.1:p.Glu1037del
ENST00000272371.6:c.5410_5412del ENSP00000272371.2:p.Glu1804del
ENST00000338581.10:c.3109_3111del ENSP00000345137.6:p.Glu1037del
ENST00000339598.7:c.3109_3111del ENSP00000344521.3:p.Glu1037del
ENST00000402415.7:c.3340_3342del ENSP00000383906.3:p.Glu1114del
ENST00000402415.8:c.3169_3171del ENSP00000383906.4:p.Glu1057del
ENST00000403946.7:c.5410_5412del ENSP00000385255.3:p.Glu1804del
XM_005264644.2:c.5395_5397del XP_005264701.1:p.Glu1799del
XM_011533185.1:c.5455_5457del XP_011531487.1:p.Glu1819del
XM_017005338.1:c.5350_5352del XP_016860827.1:p.Glu1784del
Search 100 bp 5'
Search 100 bp 3'