Canonical Allele Identifier: CA2695233300

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367422_38367423del , CM000685.2:g.38367422_38367423del	GRCh38
NC_000023.10:g.38226675_38226676del , CM000685.1:g.38226675_38226676del	GRCh37
NC_000023.9:g.38111619_38111620del	NCBI36
NG_008471.1:g.19940_19941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.209_210del MANE Select	ENSP00000039007.4:p.Lys70ArgfsTer17
ENST00000643344.1:c.209_210del	ENSP00000496606.1:p.Lys70ArgfsTer17
ENST00000039007.4:c.209_210del	ENSP00000039007.4:p.Lys70ArgfsTer17
ENST00000465127.1:c.172-298699_172-298698del	ENSP00000417050.1:n.172-298699_172-298698del
ENST00000488812.1:n.301_302del
NM_000531.5:c.209_210del	NP_000522.3:p.Lys70ArgfsTer17
XM_017029556.1:c.209_210del	XP_016885045.1:p.Lys70ArgfsTer17
NM_000531.6:c.209_210del MANE Select	NP_000522.3:p.Lys70ArgfsTer17