Canonical Allele Identifier: CA10603589

Gene: OTC

Linked Data

• ClinVar Variation Id: 280295
• ClinVar RCV Id: RCV000343069
• dbSNP Id: rs886041526
• MyVariant Identifiers: chrX:g.38226683del (hg19) ; chrX:g.38367430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367430del , CM000685.2:g.38367430del	GRCh38
NC_000023.10:g.38226683del , CM000685.1:g.38226683del	GRCh37
NC_000023.9:g.38111627del	NCBI36
NG_008471.1:g.19948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.216+1del
ENST00000643344.1:c.216+1del
ENST00000039007.4:c.216+1del
ENST00000465127.1:c.172-298691del	ENSP00000417050.1:n.172-298691del
ENST00000488812.1:n.308+1del
NM_000531.5:c.216+1del
XM_017029556.1:c.216+1del
NM_000531.6:c.216+1del