Canonical Allele Identifier: CA2049153203

Gene: OTOGL

Linked Data

• dbSNP Id: rs1880102696

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80238885_80238886del , CM000674.2:g.80238885_80238886del	GRCh38
NC_000012.11:g.80632665_80632666del , CM000674.1:g.80632665_80632666del	GRCh37
NC_000012.10:g.79156796_79156797del	NCBI36
NG_033008.1:g.34433_34434del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547103.7:c.852_853del MANE Select	ENSP00000447211.2:p.Asn284LysfsTer9
ENST00000643417.1:n.1512_1513del
ENST00000646859.1:c.852_853del	ENSP00000496036.1:p.Asn284LysfsTer9
ENST00000458043.6:c.825_826del	ENSP00000400895.2:p.Asn275LysfsTer9
ENST00000547103.5:c.825_826del	ENSP00000447211.1:p.Asn275LysfsTer9
NM_173591.3:c.825_826del	NP_775862.3:p.Asn275LysfsTer9
XM_005268802.2:c.876_877del	XP_005268859.1:p.Asn292LysfsTer9
XM_011538191.1:c.876_877del	XP_011536493.1:p.Asn292LysfsTer9
XM_011538192.1:c.723_724del	XP_011536494.1:p.Asn241LysfsTer9
XM_011538193.1:c.510_511del	XP_011536495.1:p.Asn170LysfsTer9
XM_005268802.3:c.876_877del	XP_005268859.1:p.Asn292LysfsTer9
XM_011538192.2:c.723_724del	XP_011536494.1:p.Asn241LysfsTer9
NM_001368062.1:c.825_826del	NP_001354991.1:p.Asn275LysfsTer9
NM_001368062.3:c.852_853del	NP_001354991.2:p.Asn284LysfsTer9
NM_001378609.3:c.852_853del MANE Select	NP_001365538.2:p.Asn284LysfsTer9
NM_001378610.3:c.852_853del	NP_001365539.2:p.Asn284LysfsTer9
NM_173591.7:c.852_853del	NP_775862.4:p.Asn284LysfsTer9