Canonical Allele Identifier: CA2620017164

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358956-CCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358957_80358960del , CM000674.2:g.80358957_80358960del	GRCh38
NC_000012.11:g.80752737_80752740del , CM000674.1:g.80752737_80752740del	GRCh37
NC_000012.10:g.79276868_79276871del	NCBI36
NG_033008.1:g.154505_154508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6267+57_6267+60del MANE Select	ENSP00000447211.2:n.6267+57_6267+60del
ENST00000642294.1:c.207+57_207+60del	ENSP00000493572.1:n.207+57_207+60del
ENST00000646859.1:c.6132+57_6132+60del	ENSP00000496036.1:n.6132+57_6132+60del
ENST00000298820.7:c.1527+182_1527+185del
ENST00000458043.6:c.6240+57_6240+60del	ENSP00000400895.2:n.6240+57_6240+60del
ENST00000546620.5:n.523+57_523+60del
ENST00000547103.5:c.6204+57_6204+60del	ENSP00000447211.1:n.6204+57_6204+60del
ENST00000550182.2:c.291+57_291+60del	ENSP00000449641.1:n.291+57_291+60del
ENST00000551340.5:c.395+57_395+60del
NM_173591.3:c.6240+57_6240+60del	NP_775862.3:n.6240+57_6240+60del
XM_005268802.2:c.6291+57_6291+60del	XP_005268859.1:n.6291+57_6291+60del
XM_011538191.1:c.6291+57_6291+60del	XP_011536493.1:n.6291+57_6291+60del
XM_011538192.1:c.6138+57_6138+60del	XP_011536494.1:n.6138+57_6138+60del
XM_011538193.1:c.5925+57_5925+60del	XP_011536495.1:n.5925+57_5925+60del
XM_005268802.3:c.6291+57_6291+60del	XP_005268859.1:n.6291+57_6291+60del
XM_011538192.2:c.6138+57_6138+60del	XP_011536494.1:n.6138+57_6138+60del
NM_001368062.1:c.6105+57_6105+60del	NP_001354991.1:n.6105+57_6105+60del
NM_001368062.3:c.6132+57_6132+60del	NP_001354991.2:n.6132+57_6132+60del
NM_001378609.3:c.6267+57_6267+60del MANE Select	NP_001365538.2:n.6267+57_6267+60del
NM_001378610.3:c.6267+57_6267+60del	NP_001365539.2:n.6267+57_6267+60del
NM_173591.7:c.6267+57_6267+60del	NP_775862.4:n.6267+57_6267+60del