Canonical Allele Identifier: CA6701918

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 1180412
• ClinVar RCV Id: RCV001537614
• dbSNP Id: rs146138915
• ExAC: 12:80752174 G / GT
• gnomAD v2: 12-80752174-G-GT
• gnomAD v3: 12-80358394-G-GT
• gnomAD v4: 12-80358394-G-GT
• MyVariant Identifiers: chr12:g.80752174_80752175insT (hg19) ; chr12:g.80358394_80358395insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358397dup , CM000674.2:g.80358397dup	GRCh38
NC_000012.11:g.80752177dup , CM000674.1:g.80752177dup	GRCh37
NC_000012.10:g.79276308dup	NCBI36
NG_033008.1:g.153945dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6121+48dup MANE Select	ENSP00000447211.2:n.6121+48dup
ENST00000642294.1:c.61+48dup	ENSP00000493572.1:n.61+48dup
ENST00000646859.1:c.5986+48dup	ENSP00000496036.1:n.5986+48dup
ENST00000298820.7:c.1422+48dup
ENST00000458043.6:c.6094+48dup	ENSP00000400895.2:n.6094+48dup
ENST00000546620.5:n.377+48dup
ENST00000547103.5:c.6058+48dup	ENSP00000447211.1:n.6058+48dup
ENST00000550182.2:c.145+48dup	ENSP00000449641.1:n.145+48dup
ENST00000551340.5:c.249+48dup
NM_173591.3:c.6094+48dup	NP_775862.3:n.6094+48dup
XM_005268802.2:c.6145+48dup	XP_005268859.1:n.6145+48dup
XM_011538191.1:c.6145+48dup	XP_011536493.1:n.6145+48dup
XM_011538192.1:c.5992+48dup	XP_011536494.1:n.5992+48dup
XM_011538193.1:c.5779+48dup	XP_011536495.1:n.5779+48dup
XM_005268802.3:c.6145+48dup	XP_005268859.1:n.6145+48dup
XM_011538192.2:c.5992+48dup	XP_011536494.1:n.5992+48dup
NM_001368062.1:c.5959+48dup	NP_001354991.1:n.5959+48dup
NM_001368062.3:c.5986+48dup	NP_001354991.2:n.5986+48dup
NM_001378609.3:c.6121+48dup MANE Select	NP_001365538.2:n.6121+48dup
NM_001378610.3:c.6121+48dup	NP_001365539.2:n.6121+48dup
NM_173591.7:c.6121+48dup	NP_775862.4:n.6121+48dup