Canonical Allele Identifier: CA531396102

Gene: OTOF

Linked Data

• dbSNP Id: rs1450939476
• gnomAD v2: 2-26705551-G-GTGGGCGCATGTGTGCGTGAA
• gnomAD v3: 2-26482683-G-GTGGGCGCATGTGTGCGTGAA
• gnomAD v4: 2-26482683-G-GTGGGCGCATGTGTGCGTGAA
• MyVariant Identifiers: chr2:g.26705551_26705552insTGGGCGCATGTGTGCGTGAA (hg19) ; chr2:g.26482683_26482684insTGGGCGCATGTGTGCGTGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482688_26482689insGCATGTGTGCGTGAATGGGC , CM000664.2:g.26482688_26482689insGCATGTGTGCGTGAATGGGC	GRCh38
NC_000002.11:g.26705556_26705557insGCATGTGTGCGTGAATGGGC , CM000664.1:g.26705556_26705557insGCATGTGTGCGTGAATGGGC	GRCh37
NC_000002.10:g.26559060_26559061insGCATGTGTGCGTGAATGGGC	NCBI36
NG_009937.1:g.81015_81016insTTCACGCACACATGCGCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-92_1393-91insTTCACGCACACATGCGCCCA MANE Select	ENSP00000272371.2:n.1393-92_1393-91insTTCACGCACACATGCGCCCA
ENST00000272371.6:c.1393-92_1393-91insTTCACGCACACATGCGCCCA	ENSP00000272371.2:n.1393-92_1393-91insTTCACGCACACATGCGCCCA
ENST00000403946.7:c.1393-92_1393-91insTTCACGCACACATGCGCCCA	ENSP00000385255.3:n.1393-92_1393-91insTTCACGCACACATGCGCCCA
NM_001287489.1:c.1393-92_1393-91insTTCACGCACACATGCGCCCA	NP_001274418.1:n.1393-92_1393-91insTTCACGCACACATGCGCCCA
NM_194248.2:c.1393-92_1393-91insTTCACGCACACATGCGCCCA	NP_919224.1:n.1393-92_1393-91insTTCACGCACACATGCGCCCA
XM_005264644.2:c.1438-92_1438-91insTTCACGCACACATGCGCCCA	XP_005264701.1:n.1438-92_1438-91insTTCACGCACACATGCGCCCA
XM_011533185.1:c.1438-92_1438-91insTTCACGCACACATGCGCCCA	XP_011531487.1:n.1438-92_1438-91insTTCACGCACACATGCGCCCA
XM_017005338.1:c.1393-92_1393-91insTTCACGCACACATGCGCCCA	XP_016860827.1:n.1393-92_1393-91insTTCACGCACACATGCGCCCA
NM_001287489.2:c.1393-92_1393-91insTTCACGCACACATGCGCCCA	NP_001274418.1:n.1393-92_1393-91insTTCACGCACACATGCGCCCA
NM_194248.3:c.1393-92_1393-91insTTCACGCACACATGCGCCCA MANE Select	NP_919224.1:n.1393-92_1393-91insTTCACGCACACATGCGCCCA