Canonical Allele Identifier: CA606202944

Gene: OTOGL

Linked Data

• dbSNP Id: rs1247208796
• gnomAD v2: 12-80752669-AC-A
• gnomAD v3: 12-80358889-AC-A
• gnomAD v4: 12-80358889-AC-A
• MyVariant Identifiers: chr12:g.80752670del (hg19) ; chr12:g.80358890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358890del , CM000674.2:g.80358890del	GRCh38
NC_000012.11:g.80752670del , CM000674.1:g.80752670del	GRCh37
NC_000012.10:g.79276801del	NCBI36
NG_033008.1:g.154438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6257del MANE Select	ENSP00000447211.2:p.Thr2086IlefsTer10
ENST00000642294.1:c.197del	ENSP00000493572.1:p.Thr66IlefsTer4
ENST00000646859.1:c.6122del	ENSP00000496036.1:p.Thr2041IlefsTer10
ENST00000298820.7:c.1527+115del
ENST00000458043.6:c.6230del	ENSP00000400895.2:p.Thr2077IlefsTer10
ENST00000546620.5:n.513del
ENST00000547103.5:c.6194del	ENSP00000447211.1:p.Thr2065IlefsTer10
ENST00000550182.2:c.281del	ENSP00000449641.1:p.Thr94IlefsTer10
ENST00000551340.5:c.385del
NM_173591.3:c.6230del	NP_775862.3:p.Thr2077IlefsTer10
XM_005268802.2:c.6281del	XP_005268859.1:p.Thr2094IlefsTer10
XM_011538191.1:c.6281del	XP_011536493.1:p.Thr2094IlefsTer10
XM_011538192.1:c.6128del	XP_011536494.1:p.Thr2043IlefsTer10
XM_011538193.1:c.5915del	XP_011536495.1:p.Thr1972IlefsTer10
XM_005268802.3:c.6281del	XP_005268859.1:p.Thr2094IlefsTer10
XM_011538192.2:c.6128del	XP_011536494.1:p.Thr2043IlefsTer10
NM_001368062.1:c.6095del	NP_001354991.1:p.Thr2032IlefsTer10
NM_001368062.3:c.6122del	NP_001354991.2:p.Thr2041IlefsTer10
NM_001378609.3:c.6257del MANE Select	NP_001365538.2:p.Thr2086IlefsTer10
NM_001378610.3:c.6257del	NP_001365539.2:p.Thr2086IlefsTer10
NM_173591.7:c.6257del	NP_775862.4:p.Thr2086IlefsTer10