Allele Registry

Canonical Allele Identifier: CA224561

Gene: OTC HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrX:g.38381401_38381402del

GRCh37 chrX:g.38240654_38240655del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000083406

ClinVar Variation:

97173

dbSNP:

72554354

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381402_38381403del , CM000685.2:g.38381402_38381403del	GRCh38
NC_000023.10:g.38240655_38240656del , CM000685.1:g.38240655_38240656del	GRCh37
NC_000023.9:g.38125599_38125600del	NCBI36
NG_008471.1:g.33920_33921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.359_360del MANE Select	ENSP00000039007.4:p.Val120GlufsTer2
ENST00000643344.1:c.109_110del	ENSP00000496606.1:n.109_110del
ENST00000039007.4:c.359_360del	ENSP00000039007.4:p.Val120GlufsTer2
ENST00000465127.1:c.172-284719_172-284718del	ENSP00000417050.1:n.172-284719_172-284718del
ENST00000488812.1:n.396_397del
NM_000531.5:c.359_360del	NP_000522.3:p.Val120GlufsTer2
XM_017029556.1:c.359_360del	XP_016885045.1:p.Val120GlufsTer2
NM_000531.6:c.359_360del MANE Select	NP_000522.3:p.Val120GlufsTer2

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