Canonical Allele Identifier: CA6701919

Gene: OTOGL

Linked Data

• dbSNP Id: rs763755547
• ExAC: 12:80752177 TAAG / T
• gnomAD v2: 12-80752177-TAAG-T
• gnomAD v4: 12-80358397-TAAG-T
• MyVariant Identifiers: chr12:g.80752178_80752180del (hg19) ; chr12:g.80358398_80358400del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358401_80358403del , CM000674.2:g.80358401_80358403del	GRCh38
NC_000012.11:g.80752181_80752183del , CM000674.1:g.80752181_80752183del	GRCh37
NC_000012.10:g.79276312_79276314del	NCBI36
NG_033008.1:g.153949_153951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6121+52_6121+54del MANE Select	ENSP00000447211.2:n.6121+52_6121+54del
ENST00000642294.1:c.61+52_61+54del	ENSP00000493572.1:n.61+52_61+54del
ENST00000646859.1:c.5986+52_5986+54del	ENSP00000496036.1:n.5986+52_5986+54del
ENST00000298820.7:c.1422+52_1422+54del
ENST00000458043.6:c.6094+52_6094+54del	ENSP00000400895.2:n.6094+52_6094+54del
ENST00000546620.5:n.377+52_377+54del
ENST00000547103.5:c.6058+52_6058+54del	ENSP00000447211.1:n.6058+52_6058+54del
ENST00000550182.2:c.145+52_145+54del	ENSP00000449641.1:n.145+52_145+54del
ENST00000551340.5:c.249+52_249+54del
NM_173591.3:c.6094+52_6094+54del	NP_775862.3:n.6094+52_6094+54del
XM_005268802.2:c.6145+52_6145+54del	XP_005268859.1:n.6145+52_6145+54del
XM_011538191.1:c.6145+52_6145+54del	XP_011536493.1:n.6145+52_6145+54del
XM_011538192.1:c.5992+52_5992+54del	XP_011536494.1:n.5992+52_5992+54del
XM_011538193.1:c.5779+52_5779+54del	XP_011536495.1:n.5779+52_5779+54del
XM_005268802.3:c.6145+52_6145+54del	XP_005268859.1:n.6145+52_6145+54del
XM_011538192.2:c.5992+52_5992+54del	XP_011536494.1:n.5992+52_5992+54del
NM_001368062.1:c.5959+52_5959+54del	NP_001354991.1:n.5959+52_5959+54del
NM_001368062.3:c.5986+52_5986+54del	NP_001354991.2:n.5986+52_5986+54del
NM_001378609.3:c.6121+52_6121+54del MANE Select	NP_001365538.2:n.6121+52_6121+54del
NM_001378610.3:c.6121+52_6121+54del	NP_001365539.2:n.6121+52_6121+54del
NM_173591.7:c.6121+52_6121+54del	NP_775862.4:n.6121+52_6121+54del