Canonical Allele Identifier: CA2424870818

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367354_38367356delinsCTT , CM000685.2:g.38367354_38367356delinsCTT	GRCh38
NC_000023.10:g.38226607_38226609delinsCTT , CM000685.1:g.38226607_38226609delinsCTT	GRCh37
NC_000023.9:g.38111551_38111553delinsCTT	NCBI36
NG_008471.1:g.19872_19874delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.141_143delinsCTT MANE Select	ENSP00000039007.4:p.Asn47=
ENST00000643344.1:c.141_143delinsCTT	ENSP00000496606.1:p.Asn47=
ENST00000039007.4:c.141_143delinsCTT	ENSP00000039007.4:p.Asn47=
ENST00000465127.1:c.172-298767_172-298765delinsCTT	ENSP00000417050.1:n.172-298767_172-298765...
ENST00000488812.1:n.233_235delinsCTT
NM_000531.5:c.141_143delinsCTT	NP_000522.3:p.Asn47=
XM_017029556.1:c.141_143delinsCTT	XP_016885045.1:p.Asn47=
NM_000531.6:c.141_143delinsCTT MANE Select	NP_000522.3:p.Asn47=