Canonical Allele Identifier: CA2820488978

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367423_38367424insCCAAACACACCCAACACA , CM000685.2:g.38367423_38367424insCCAAACACACCCAACACA	GRCh38
NC_000023.10:g.38226676_38226677insCCAAACACACCCAACACA , CM000685.1:g.38226676_38226677insCCAAACACACCCAACACA	GRCh37
NC_000023.9:g.38111620_38111621insCCAAACACACCCAACACA	NCBI36
NG_008471.1:g.19941_19942insCCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.210_211insCCAAACACACCCAACACA MANE Select	ENSP00000039007.4:p.Lys70_Gly71insProAsnThrProAsnThr
ENST00000643344.1:c.210_211insCCAAACACACCCAACACA	ENSP00000496606.1:p.Lys70_Gly71insProAsnThrProAsnThr
ENST00000039007.4:c.210_211insCCAAACACACCCAACACA	ENSP00000039007.4:p.Lys70_Gly71insProAsnThrProAsnThr
ENST00000465127.1:c.172-298698_172-298697insCCAAACACACCCAACACA	ENSP00000417050.1:n.172-298698_172-298697insCCAAACACACCCAACAC...
ENST00000488812.1:n.302_303insCCAAACACACCCAACACA
NM_000531.5:c.210_211insCCAAACACACCCAACACA	NP_000522.3:p.Lys70_Gly71insProAsnThrProAsnThr
XM_017029556.1:c.210_211insCCAAACACACCCAACACA	XP_016885045.1:p.Lys70_Gly71insProAsnThrProAsnThr
NM_000531.6:c.210_211insCCAAACACACCCAACACA MANE Select	NP_000522.3:p.Lys70_Gly71insProAsnThrProAsnThr