Canonical Allele Identifier: CA240240083

Gene: OTOGL

Linked Data

• dbSNP Id: rs1042875106
• MyVariant Identifiers: chr12:g.80752846_80752847del (hg19) ; chr12:g.80359066_80359067del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80359066_80359067del , CM000674.2:g.80359066_80359067del	GRCh38
NC_000012.11:g.80752846_80752847del , CM000674.1:g.80752846_80752847del	GRCh37
NC_000012.10:g.79276977_79276978del	NCBI36
NG_033008.1:g.154614_154615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6267+166_6267+167del MANE Select	ENSP00000447211.2:n.6267+166_6267+167del
ENST00000642294.1:c.207+166_207+167del	ENSP00000493572.1:n.207+166_207+167del
ENST00000646859.1:c.6132+166_6132+167del	ENSP00000496036.1:n.6132+166_6132+167del
ENST00000298820.7:c.1527+291_1527+292del
ENST00000458043.6:c.6240+166_6240+167del	ENSP00000400895.2:n.6240+166_6240+167del
ENST00000546620.5:n.523+166_523+167del
ENST00000547103.5:c.6204+166_6204+167del	ENSP00000447211.1:n.6204+166_6204+167del
ENST00000550182.2:c.291+166_291+167del	ENSP00000449641.1:n.291+166_291+167del
ENST00000551340.5:c.395+166_395+167del
NM_173591.3:c.6240+166_6240+167del	NP_775862.3:n.6240+166_6240+167del
XM_005268802.2:c.6291+166_6291+167del	XP_005268859.1:n.6291+166_6291+167del
XM_011538191.1:c.6291+166_6291+167del	XP_011536493.1:n.6291+166_6291+167del
XM_011538192.1:c.6138+166_6138+167del	XP_011536494.1:n.6138+166_6138+167del
XM_011538193.1:c.5925+166_5925+167del	XP_011536495.1:n.5925+166_5925+167del
XM_005268802.3:c.6291+166_6291+167del	XP_005268859.1:n.6291+166_6291+167del
XM_011538192.2:c.6138+166_6138+167del	XP_011536494.1:n.6138+166_6138+167del
NM_001368062.1:c.6105+166_6105+167del	NP_001354991.1:n.6105+166_6105+167del
NM_001368062.3:c.6132+166_6132+167del	NP_001354991.2:n.6132+166_6132+167del
NM_001378609.3:c.6267+166_6267+167del MANE Select	NP_001365538.2:n.6267+166_6267+167del
NM_001378610.3:c.6267+166_6267+167del	NP_001365539.2:n.6267+166_6267+167del
NM_173591.7:c.6267+166_6267+167del	NP_775862.4:n.6267+166_6267+167del