Canonical Allele Identifier: CA6700965

Gene: OTOGL

Linked Data

• ClinVar Variation Id: 505260
• ClinVar RCV Id: RCV000609661 ; RCV002529325 ; RCV003991032
• dbSNP Id: rs764178233
• ExAC: 12:80696424 G / GT
• gnomAD v2: 12-80696424-G-GT
• gnomAD v3: 12-80302644-G-GT
• gnomAD v4: 12-80302644-G-GT
• MyVariant Identifiers: chr12:g.80696431_80696432insT (hg19) ; chr12:g.80696424_80696425insT (hg19) ; chr12:g.80302651_80302652insT (hg38) ; chr12:g.80302644_80302645insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80302651dup , CM000674.2:g.80302651dup	GRCh38
NC_000012.11:g.80696431dup , CM000674.1:g.80696431dup	GRCh37
NC_000012.10:g.79220562dup	NCBI36
NG_033008.1:g.98199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.3081dup MANE Select	ENSP00000447211.2:p.Leu1028SerfsTer?
ENST00000646859.1:c.2946dup	ENSP00000496036.1:p.Leu983SerfsTer?
ENST00000458043.6:c.3054dup	ENSP00000400895.2:p.Leu1019SerfsTer?
ENST00000547103.5:c.3054dup	ENSP00000447211.1:p.Leu1019SerfsTer?
NM_173591.3:c.3054dup	NP_775862.3:p.Leu1019SerfsTer?
XM_005268802.2:c.3105dup	XP_005268859.1:p.Leu1036SerfsTer?
XM_011538191.1:c.3105dup	XP_011536493.1:p.Leu1036SerfsTer?
XM_011538192.1:c.2952dup	XP_011536494.1:p.Leu985SerfsTer?
XM_011538193.1:c.2739dup	XP_011536495.1:p.Leu914SerfsTer?
XM_005268802.3:c.3105dup	XP_005268859.1:p.Leu1036SerfsTer?
XM_011538192.2:c.2952dup	XP_011536494.1:p.Leu985SerfsTer?
NM_001368062.1:c.2919dup	NP_001354991.1:p.Leu974SerfsTer?
NM_001368062.3:c.2946dup	NP_001354991.2:p.Leu983SerfsTer?
NM_001378609.3:c.3081dup MANE Select	NP_001365538.2:p.Leu1028SerfsTer?
NM_001378610.3:c.3081dup	NP_001365539.2:p.Leu1028SerfsTer?
NM_173591.7:c.3081dup	NP_775862.4:p.Leu1028SerfsTer?