Canonical Allele Identifier: CA10385831

Gene: OTC

Linked Data

• ClinVar Variation Id: 1547308
• ClinVar RCV Id: RCV002186752
• dbSNP Id: rs764551624
• ExAC: X:38240577 C / CT
• gnomAD v2: X-38240577-C-CT
• gnomAD v3: X-38381324-C-CT
• gnomAD v4: X-38381324-C-CT
• MyVariant Identifiers: chrX:g.38240587_38240588insT (hg19) ; chrX:g.38240579_38240580insT (hg19) ; chrX:g.38240578_38240579insT (hg19) ; chrX:g.38240577_38240578insT (hg19) ; chrX:g.38381334_38381335insT (hg38) ; chrX:g.38381325_38381326insT (hg38) ; chrX:g.38381324_38381325insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381334dup , CM000685.2:g.38381334dup	GRCh38
NC_000023.10:g.38240587dup , CM000685.1:g.38240587dup	GRCh37
NC_000023.9:g.38125531dup	NCBI36
NG_008471.1:g.33852dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.299-8dup MANE Select	ENSP00000039007.4:n.299-8dup
ENST00000643344.1:c.*49-8dup	ENSP00000496606.1:n.*49-8dup
ENST00000039007.4:c.299-8dup	ENSP00000039007.4:n.299-8dup
ENST00000465127.1:c.172-284787dup	ENSP00000417050.1:n.172-284787dup
ENST00000488812.1:n.354-26dup
NM_000531.5:c.299-8dup	NP_000522.3:n.299-8dup
XM_017029556.1:c.299-8dup	XP_016885045.1:n.299-8dup
NM_000531.6:c.299-8dup MANE Select	NP_000522.3:n.299-8dup