Canonical Allele Identifier: CA2580616981

Gene: OTC

Linked Data

• ClinVar Variation Id: 2501754
• ClinVar RCV Id: RCV003228176

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408991_38409022delinsCC , CM000685.2:g.38408991_38409022delinsCC	GRCh38
NC_000023.10:g.38268244_38268275delinsCC , CM000685.1:g.38268244_38268275delinsCC	GRCh37
NC_000023.9:g.38153188_38153219delinsCC	NCBI36
NG_008471.1:g.61509_61540delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.833_864delinsCC MANE Select	ENSP00000039007.4:p.Leu278_Met288delinsPro
ENST00000643344.1:c.*583_*614delinsCC	ENSP00000496606.1:n.*583_*614delinsCC
ENST00000039007.4:c.833_864delinsCC	ENSP00000039007.4:p.Leu278_Met288delinsPro
ENST00000465127.1:c.172-257130_172-257099delinsCC	ENSP00000417050.1:n.172-257130_172-257099delinsCC
NM_000531.5:c.833_864delinsCC	NP_000522.3:p.Leu278_Met288delinsPro
XM_017029556.1:c.833_864delinsCC	XP_016885045.1:p.Leu278_Met288delinsPro
NM_000531.6:c.833_864delinsCC MANE Select	NP_000522.3:p.Leu278_Met288delinsPro