Canonical Allele Identifier: CA597904979

Gene: OTOG

Linked Data

• dbSNP Id: rs1245435256
• gnomAD v2: 11-17633844-GGGGACCGCTGCTGCCCACTCT-G
• gnomAD v3: 11-17612297-GGGGACCGCTGCTGCCCACTCT-G
• gnomAD v4: 11-17612297-GGGGACCGCTGCTGCCCACTCT-G
• MyVariant Identifiers: chr11:g.17633845_17633865del (hg19) ; chr11:g.17612298_17612318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612302_17612322del , CM000673.2:g.17612302_17612322del	GRCh38
NC_000011.9:g.17633849_17633869del , CM000673.1:g.17633849_17633869del	GRCh37
NC_000011.8:g.17590425_17590445del	NCBI36
NG_033191.1:g.69930_69950del
NG_033191.2:g.69930_69950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6300_6320del	ENSP00000382323.2:p.Asp2100_Trp2106del
ENST00000399397.6:c.6264_6284del MANE Select	ENSP00000382329.2:p.Asp2088_Trp2094del
ENST00000342528.2:c.3318_3338del	ENSP00000341666.2:p.Asp1106_Trp1112del
ENST00000399391.6:c.6300_6320del	ENSP00000382323.2:p.Asp2100_Trp2106del
ENST00000399397.5:c.6264_6284del	ENSP00000382329.2:p.Asp2088_Trp2094del
NM_001277269.1:c.6300_6320del	NP_001264198.1:p.Asp2100_Trp2106del
NM_001292063.1:c.6264_6284del	NP_001278992.1:p.Asp2088_Trp2094del
NM_001277269.2:c.6300_6320del	NP_001264198.1:p.Asp2100_Trp2106del
NM_001292063.2:c.6264_6284del MANE Select	NP_001278992.1:p.Asp2088_Trp2094del