Canonical Allele Identifier: CA674246519

Gene: OTOG

Linked Data

• dbSNP Id: rs1452370189
• gnomAD v3: 11-17553224-T-TCCACC
• gnomAD v4: 11-17553224-T-TCCACC
• MyVariant Identifiers: chr11:g.17574771_17574772insCCACC (hg19) ; chr11:g.17553224_17553225insCCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553232_17553236dup , CM000673.2:g.17553232_17553236dup	GRCh38
NC_000011.9:g.17574779_17574783dup , CM000673.1:g.17574779_17574783dup	GRCh37
NC_000011.8:g.17531355_17531359dup	NCBI36
NG_033191.1:g.10860_10864dup
NG_033191.2:g.10860_10864dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.421+21_421+25dup	ENSP00000382323.2:n.421+21_421+25dup
ENST00000399397.6:c.385+21_385+25dup MANE Select	ENSP00000382329.2:n.385+21_385+25dup
ENST00000399391.6:c.421+21_421+25dup	ENSP00000382323.2:n.421+21_421+25dup
ENST00000399397.5:c.385+21_385+25dup	ENSP00000382329.2:n.385+21_385+25dup
ENST00000428619.1:c.202+21_202+25dup	ENSP00000399057.2:n.202+21_202+25dup
ENST00000498332.5:n.291+21_291+25dup
NM_001277269.1:c.421+21_421+25dup	NP_001264198.1:n.421+21_421+25dup
NM_001292063.1:c.385+21_385+25dup	NP_001278992.1:n.385+21_385+25dup
NM_001277269.2:c.421+21_421+25dup	NP_001264198.1:n.421+21_421+25dup
NM_001292063.2:c.385+21_385+25dup MANE Select	NP_001278992.1:n.385+21_385+25dup