Canonical Allele Identifier: CA606188105
Gene: OTOGL HGNC NCBI

Linked Data

ClinVar Variation Id: 873527
ClinVar RCV Id: RCV001095778
dbSNP Id: rs1565920060

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80238883_80238884insCATCGCTATGTTTGCA , CM000674.2:g.80238883_80238884insCATCGCTATGTTTGCA GRCh38
NC_000012.11:g.80632663_80632664insCATCGCTATGTTTGCA , CM000674.1:g.80632663_80632664insCATCGCTATGTTTGCA GRCh37
NC_000012.10:g.79156794_79156795insCATCGCTATGTTTGCA NCBI36
NG_033008.1:g.34431_34432insCATCGCTATGTTTGCA

Transcript Alleles

HGVS Amino-acid change
ENST00000547103.7:c.850_851insCATCGCTATGTTTGCA MANE Select ENSP00000447211.2:p.Asn284ThrfsTer7
ENST00000643417.1:n.1510_1511insCATCGCTATGTTTGCA
ENST00000646859.1:c.850_851insCATCGCTATGTTTGCA ENSP00000496036.1:p.Asn284ThrfsTer7
ENST00000458043.6:c.823_824insCATCGCTATGTTTGCA ENSP00000400895.2:p.Asn275ThrfsTer7
ENST00000547103.5:c.823_824insCATCGCTATGTTTGCA ENSP00000447211.1:p.Asn275ThrfsTer7
NM_173591.3:c.823_824insCATCGCTATGTTTGCA NP_775862.3:p.Asn275ThrfsTer7
XM_005268802.2:c.874_875insCATCGCTATGTTTGCA XP_005268859.1:p.Asn292ThrfsTer7
XM_011538191.1:c.874_875insCATCGCTATGTTTGCA XP_011536493.1:p.Asn292ThrfsTer7
XM_011538192.1:c.721_722insCATCGCTATGTTTGCA XP_011536494.1:p.Asn241ThrfsTer7
XM_011538193.1:c.508_509insCATCGCTATGTTTGCA XP_011536495.1:p.Asn170ThrfsTer7
XM_005268802.3:c.874_875insCATCGCTATGTTTGCA XP_005268859.1:p.Asn292ThrfsTer7
XM_011538192.2:c.721_722insCATCGCTATGTTTGCA XP_011536494.1:p.Asn241ThrfsTer7
NM_001368062.1:c.823_824insCATCGCTATGTTTGCA NP_001354991.1:p.Asn275ThrfsTer7
NM_001368062.3:c.850_851insCATCGCTATGTTTGCA NP_001354991.2:p.Asn284ThrfsTer7
NM_001378609.3:c.850_851insCATCGCTATGTTTGCA MANE Select NP_001365538.2:p.Asn284ThrfsTer7
NM_001378610.3:c.850_851insCATCGCTATGTTTGCA NP_001365539.2:p.Asn284ThrfsTer7
NM_173591.7:c.850_851insCATCGCTATGTTTGCA NP_775862.4:p.Asn284ThrfsTer7