Canonical Allele Identifier: CA6701933

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 1705516
• ClinVar RCV Id: RCV002283830
• dbSNP Id: rs754134498
• ExAC: 12:80752488 CTG / C
• gnomAD v2: 12-80752488-CTG-C
• gnomAD v4: 12-80358708-CTG-C
• MyVariant Identifiers: chr12:g.80752489_80752490del (hg19) ; chr12:g.80358709_80358710del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358711_80358712del , CM000674.2:g.80358711_80358712del	GRCh38
NC_000012.11:g.80752491_80752492del , CM000674.1:g.80752491_80752492del	GRCh37
NC_000012.10:g.79276622_79276623del	NCBI36
NG_033008.1:g.154259_154260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6162_6163del MANE Select	ENSP00000447211.2:p.Ala2055ArgfsTer21
ENST00000642294.1:c.102_103del	ENSP00000493572.1:p.Ala35ArgfsTer21
ENST00000646859.1:c.6027_6028del	ENSP00000496036.1:p.Ala2010ArgfsTer21
ENST00000298820.7:c.1463_1464del
ENST00000458043.6:c.6135_6136del	ENSP00000400895.2:p.Ala2046ArgfsTer21
ENST00000546620.5:n.418_419del
ENST00000547103.5:c.6099_6100del	ENSP00000447211.1:p.Ala2034ArgfsTer21
ENST00000550182.2:c.186_187del	ENSP00000449641.1:p.Ala63ArgfsTer21
ENST00000551340.5:c.290_291del
NM_173591.3:c.6135_6136del	NP_775862.3:p.Ala2046ArgfsTer21
XM_005268802.2:c.6186_6187del	XP_005268859.1:p.Ala2063ArgfsTer21
XM_011538191.1:c.6186_6187del	XP_011536493.1:p.Ala2063ArgfsTer21
XM_011538192.1:c.6033_6034del	XP_011536494.1:p.Ala2012ArgfsTer21
XM_011538193.1:c.5820_5821del	XP_011536495.1:p.Ala1941ArgfsTer21
XM_005268802.3:c.6186_6187del	XP_005268859.1:p.Ala2063ArgfsTer21
XM_011538192.2:c.6033_6034del	XP_011536494.1:p.Ala2012ArgfsTer21
NM_001368062.1:c.6000_6001del	NP_001354991.1:p.Ala2001ArgfsTer21
NM_001368062.3:c.6027_6028del	NP_001354991.2:p.Ala2010ArgfsTer21
NM_001378609.3:c.6162_6163del MANE Select	NP_001365538.2:p.Ala2055ArgfsTer21
NM_001378610.3:c.6162_6163del	NP_001365539.2:p.Ala2055ArgfsTer21
NM_173591.7:c.6162_6163del	NP_775862.4:p.Ala2055ArgfsTer21