Canonical Allele Identifier: CA606202986

Gene: OTOGL

Linked Data

• dbSNP Id: rs1566013407
• gnomAD v2: 12-80752726-GTTTA-G
• gnomAD v4: 12-80358946-GTTTA-G
• MyVariant Identifiers: chr12:g.80752727_80752730del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358949_80358952del , CM000674.2:g.80358949_80358952del	GRCh38
NC_000012.11:g.80752729_80752732del , CM000674.1:g.80752729_80752732del	GRCh37
NC_000012.10:g.79276860_79276863del	NCBI36
NG_033008.1:g.154497_154500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6267+49_6267+52del MANE Select	ENSP00000447211.2:n.6267+49_6267+52del
ENST00000642294.1:c.207+49_207+52del	ENSP00000493572.1:n.207+49_207+52del
ENST00000646859.1:c.6132+49_6132+52del	ENSP00000496036.1:n.6132+49_6132+52del
ENST00000298820.7:c.1527+174_1527+177del
ENST00000458043.6:c.6240+49_6240+52del	ENSP00000400895.2:n.6240+49_6240+52del
ENST00000546620.5:n.523+49_523+52del
ENST00000547103.5:c.6204+49_6204+52del	ENSP00000447211.1:n.6204+49_6204+52del
ENST00000550182.2:c.291+49_291+52del	ENSP00000449641.1:n.291+49_291+52del
ENST00000551340.5:c.395+49_395+52del
NM_173591.3:c.6240+49_6240+52del	NP_775862.3:n.6240+49_6240+52del
XM_005268802.2:c.6291+49_6291+52del	XP_005268859.1:n.6291+49_6291+52del
XM_011538191.1:c.6291+49_6291+52del	XP_011536493.1:n.6291+49_6291+52del
XM_011538192.1:c.6138+49_6138+52del	XP_011536494.1:n.6138+49_6138+52del
XM_011538193.1:c.5925+49_5925+52del	XP_011536495.1:n.5925+49_5925+52del
XM_005268802.3:c.6291+49_6291+52del	XP_005268859.1:n.6291+49_6291+52del
XM_011538192.2:c.6138+49_6138+52del	XP_011536494.1:n.6138+49_6138+52del
NM_001368062.1:c.6105+49_6105+52del	NP_001354991.1:n.6105+49_6105+52del
NM_001368062.3:c.6132+49_6132+52del	NP_001354991.2:n.6132+49_6132+52del
NM_001378609.3:c.6267+49_6267+52del MANE Select	NP_001365538.2:n.6267+49_6267+52del
NM_001378610.3:c.6267+49_6267+52del	NP_001365539.2:n.6267+49_6267+52del
NM_173591.7:c.6267+49_6267+52del	NP_775862.4:n.6267+49_6267+52del