Canonical Allele Identifier: CA606202955

Gene: OTOGL

Linked Data

• dbSNP Id: rs1566013349
• gnomAD v2: 12-80752690-CAT-C
• gnomAD v4: 12-80358910-CAT-C
• MyVariant Identifiers: chr12:g.80752691_80752692del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358913_80358914del , CM000674.2:g.80358913_80358914del	GRCh38
NC_000012.11:g.80752693_80752694del , CM000674.1:g.80752693_80752694del	GRCh37
NC_000012.10:g.79276824_79276825del	NCBI36
NG_033008.1:g.154461_154462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6267+13_6267+14del MANE Select	ENSP00000447211.2:n.6267+13_6267+14del
ENST00000642294.1:c.207+13_207+14del	ENSP00000493572.1:n.207+13_207+14del
ENST00000646859.1:c.6132+13_6132+14del	ENSP00000496036.1:n.6132+13_6132+14del
ENST00000298820.7:c.1527+138_1527+139del
ENST00000458043.6:c.6240+13_6240+14del	ENSP00000400895.2:n.6240+13_6240+14del
ENST00000546620.5:n.523+13_523+14del
ENST00000547103.5:c.6204+13_6204+14del	ENSP00000447211.1:n.6204+13_6204+14del
ENST00000550182.2:c.291+13_291+14del	ENSP00000449641.1:n.291+13_291+14del
ENST00000551340.5:c.395+13_395+14del
NM_173591.3:c.6240+13_6240+14del	NP_775862.3:n.6240+13_6240+14del
XM_005268802.2:c.6291+13_6291+14del	XP_005268859.1:n.6291+13_6291+14del
XM_011538191.1:c.6291+13_6291+14del	XP_011536493.1:n.6291+13_6291+14del
XM_011538192.1:c.6138+13_6138+14del	XP_011536494.1:n.6138+13_6138+14del
XM_011538193.1:c.5925+13_5925+14del	XP_011536495.1:n.5925+13_5925+14del
XM_005268802.3:c.6291+13_6291+14del	XP_005268859.1:n.6291+13_6291+14del
XM_011538192.2:c.6138+13_6138+14del	XP_011536494.1:n.6138+13_6138+14del
NM_001368062.1:c.6105+13_6105+14del	NP_001354991.1:n.6105+13_6105+14del
NM_001368062.3:c.6132+13_6132+14del	NP_001354991.2:n.6132+13_6132+14del
NM_001378609.3:c.6267+13_6267+14del MANE Select	NP_001365538.2:n.6267+13_6267+14del
NM_001378610.3:c.6267+13_6267+14del	NP_001365539.2:n.6267+13_6267+14del
NM_173591.7:c.6267+13_6267+14del	NP_775862.4:n.6267+13_6267+14del