Canonical Allele Identifier: CA224820

Gene: OTC

Linked Data

• ClinVar Variation Id: 97348
• ClinVar RCV Id: RCV000083596
• dbSNP Id: rs72558460
• MyVariant Identifiers: chrX:g.38271139_38271140del (hg19) ; chrX:g.38411886_38411887del (hg38)
• PubMed: PMID:8938172

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411886_38411887del , CM000685.2:g.38411886_38411887del	GRCh38
NC_000023.10:g.38271139_38271140del , CM000685.1:g.38271139_38271140del	GRCh37
NC_000023.9:g.38156083_38156084del	NCBI36
NG_008471.1:g.64404_64405del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.892_893del MANE Select	ENSP00000039007.4:p.Trp298AspfsTer15
ENST00000643344.1:c.*642_*643del	ENSP00000496606.1:n.*642_*643del
ENST00000039007.4:c.892_893del	ENSP00000039007.4:p.Trp298AspfsTer15
ENST00000465127.1:c.172-254235_172-254234del	ENSP00000417050.1:n.172-254235_172-254234...
NM_000531.5:c.892_893del	NP_000522.3:p.Trp298AspfsTer15
NM_000531.6:c.892_893del MANE Select	NP_000522.3:p.Trp298AspfsTer15