Canonical Allele Identifier: CA597677386

Gene: OTOG

Linked Data

• dbSNP Id: rs1392385856
• gnomAD v2: 11-17659962-GTGAC-G
• gnomAD v4: 11-17638415-GTGAC-G
• MyVariant Identifiers: chr11:g.17659963_17659966del (hg19) ; chr11:g.17638416_17638419del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17638420_17638423del , CM000673.2:g.17638420_17638423del	GRCh38
NC_000011.9:g.17659967_17659970del , CM000673.1:g.17659967_17659970del	GRCh37
NC_000011.8:g.17616543_17616546del	NCBI36
NG_033191.1:g.96048_96051del
NG_033191.2:g.96048_96051del

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.7832-31_7832-28del	ENSP00000382323.2:n.7832-31_7832-28del
ENST00000399397.6:c.7796-31_7796-28del MANE Select	ENSP00000382329.2:n.7796-31_7796-28del
ENST00000342528.2:c.4424-31_4424-28del	ENSP00000341666.2:n.4424-31_4424-28del
ENST00000399391.6:c.7832-31_7832-28del	ENSP00000382323.2:n.7832-31_7832-28del
ENST00000399397.5:c.7796-31_7796-28del	ENSP00000382329.2:n.7796-31_7796-28del
NM_001277269.1:c.7832-31_7832-28del	NP_001264198.1:n.7832-31_7832-28del
NM_001292063.1:c.7796-31_7796-28del	NP_001278992.1:n.7796-31_7796-28del
NM_001277269.2:c.7832-31_7832-28del	NP_001264198.1:n.7832-31_7832-28del
NM_001292063.2:c.7796-31_7796-28del MANE Select	NP_001278992.1:n.7796-31_7796-28del