Allele Registry

Canonical Allele Identifier: CA224576

Gene: OTC HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrX:g.38401278_38401279insTTA

GRCh37 chrX:g.38260531_38260532insTTA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000083420

ClinVar Variation:

97185

dbSNP:

72556251

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401278_38401280dup , CM000685.2:g.38401278_38401280dup	GRCh38
NC_000023.10:g.38260531_38260533dup , CM000685.1:g.38260531_38260533dup	GRCh37
NC_000023.9:g.38145475_38145477dup	NCBI36
NG_008471.1:g.53796_53798dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.390_392dup MANE Select	ENSP00000039007.4:p.Leu131_Ser132insLeu
ENST00000643344.1:c.140_142dup	ENSP00000496606.1:n.140_142dup
ENST00000039007.4:c.390_392dup	ENSP00000039007.4:p.Leu131_Ser132insLeu
ENST00000465127.1:c.172-264843_172-264841dup	ENSP00000417050.1:n.172-264843_172-264841dup
ENST00000488812.1:n.427_429dup
NM_000531.5:c.390_392dup	NP_000522.3:p.Leu131_Ser132insLeu
XM_017029556.1:c.390_392dup	XP_016885045.1:p.Leu131_Ser132insLeu
NM_000531.6:c.390_392dup MANE Select	NP_000522.3:p.Leu131_Ser132insLeu

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