Canonical Allele Identifier: CA224762

Gene: OTC

Linked Data

• ClinVar Variation Id: 97304
• ClinVar RCV Id: RCV000083550
• dbSNP Id: rs72558434
• MyVariant Identifiers: chrX:g.38268125_38268140del (hg19) ; chrX:g.38408872_38408887del (hg38)
• PubMed: PMID:16786505

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408874_38408889del , CM000685.2:g.38408874_38408889del	GRCh38
NC_000023.10:g.38268127_38268142del , CM000685.1:g.38268127_38268142del	GRCh37
NC_000023.9:g.38153071_38153086del	NCBI36
NG_008471.1:g.61392_61407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.718-2_731del
ENST00000643344.1:c.*468-2_*481del
ENST00000039007.4:c.718-2_731del
ENST00000465127.1:c.172-257247_172-257232del	ENSP00000417050.1:n.172-257247_172-257232del
NM_000531.5:c.718-2_731del
XM_017029556.1:c.718-2_731del
NM_000531.6:c.718-2_731del