Canonical Allele Identifier: CA2424884333

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408870_38408886delinsTGCTAGAATGGTACCAA , CM000685.2:g.38408870_38408886delinsTGCTAGAATGGTACCAA	GRCh38
NC_000023.10:g.38268123_38268139delinsTGCTAGAATGGTACCAA , CM000685.1:g.38268123_38268139delinsTGCTAGAATGGTACCAA	GRCh37
NC_000023.9:g.38153067_38153083delinsTGCTAGAATGGTACCAA	NCBI36
NG_008471.1:g.61388_61404delinsTGCTAGAATGGTACCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.718-6_728delinsTGCTAGAATGGTACCAA
ENST00000643344.1:c.*468-6_*478delinsTGCTAGAATGGTACCAA
ENST00000039007.4:c.718-6_728delinsTGCTAGAATGGTACCAA
ENST00000465127.1:c.172-257251_172-257235delinsTGCTAGAATGGTACCAA	ENSP00000417050.1:n.172-257251_172-257235delinsTGCTAGAATGGTAC...
NM_000531.5:c.718-6_728delinsTGCTAGAATGGTACCAA
XM_017029556.1:c.718-6_728delinsTGCTAGAATGGTACCAA
NM_000531.6:c.718-6_728delinsTGCTAGAATGGTACCAA