Allele Registry

Canonical Allele Identifier: CA224540

Gene: OTC HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrX:g.38352724_38352727del

GRCh37 chrX:g.38211977_38211980del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000083390

RCV002490733

ClinVar Variation:

97157

dbSNP:

72552297

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38352725_38352728del , CM000685.2:g.38352725_38352728del	GRCh38
NC_000023.10:g.38211978_38211981del , CM000685.1:g.38211978_38211981del	GRCh37
NC_000023.9:g.38096922_38096925del	NCBI36
NG_008471.1:g.5243_5246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.29_32del MANE Select	ENSP00000039007.4:p.Asn10MetfsTer27
ENST00000643344.1:c.29_32del	ENSP00000496606.1:p.Asn10MetfsTer27
ENST00000039007.4:c.29_32del	ENSP00000039007.4:p.Asn10MetfsTer27
ENST00000465127.1:c.172-313396_172-313393del	ENSP00000417050.1:n.172-313396_172-313393del
ENST00000488812.1:n.121_124del
NM_000531.5:c.29_32del	NP_000522.3:p.Asn10MetfsTer27
XM_017029556.1:c.29_32del	XP_016885045.1:p.Asn10MetfsTer27
NM_000531.6:c.29_32del MANE Select	NP_000522.3:p.Asn10MetfsTer27

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