Canonical Allele Identifier: CA10385834

Gene: OTC

Linked Data

• ClinVar Variation Id: 1168463
• ClinVar RCV Id: RCV001518748
• dbSNP Id: rs374145788
• ExAC: X:38240587 T / TA
• gnomAD v2: X-38240587-T-TA
• gnomAD v3: X-38381334-T-TA
• gnomAD v4: X-38381334-T-TA
• MyVariant Identifiers: chrX:g.38240587_38240588insA (hg19) ; chrX:g.38381334_38381335insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381335dup , CM000685.2:g.38381335dup	GRCh38
NC_000023.10:g.38240588dup , CM000685.1:g.38240588dup	GRCh37
NC_000023.9:g.38125532dup	NCBI36
NG_008471.1:g.33853dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.299-7dup MANE Select	ENSP00000039007.4:n.299-7dup
ENST00000643344.1:c.*49-7dup	ENSP00000496606.1:n.*49-7dup
ENST00000039007.4:c.299-7dup	ENSP00000039007.4:n.299-7dup
ENST00000465127.1:c.172-284786dup	ENSP00000417050.1:n.172-284786dup
ENST00000488812.1:n.354-25dup
NM_000531.5:c.299-7dup	NP_000522.3:n.299-7dup
XM_017029556.1:c.299-7dup	XP_016885045.1:n.299-7dup
NM_000531.6:c.299-7dup MANE Select	NP_000522.3:n.299-7dup