Canonical Allele Identifier: CA2424870896

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367528_38367529delinsTA , CM000685.2:g.38367528_38367529delinsTA	GRCh38
NC_000023.10:g.38226781_38226782delinsTA , CM000685.1:g.38226781_38226782delinsTA	GRCh37
NC_000023.9:g.38111725_38111726delinsTA	NCBI36
NG_008471.1:g.20046_20047delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.216+99_216+100delinsTA MANE Select	ENSP00000039007.4:n.216+99_216+100delinsTA
ENST00000643344.1:c.216+99_216+100delinsTA	ENSP00000496606.1:n.216+99_216+100delinsTA
ENST00000039007.4:c.216+99_216+100delinsTA	ENSP00000039007.4:n.216+99_216+100delinsTA
ENST00000465127.1:c.172-298593_172-298592delinsTA	ENSP00000417050.1:n.172-298593_172-298592delinsTA
ENST00000488812.1:n.308+99_308+100delinsTA
NM_000531.5:c.216+99_216+100delinsTA	NP_000522.3:n.216+99_216+100delinsTA
XM_017029556.1:c.216+99_216+100delinsTA	XP_016885045.1:n.216+99_216+100delinsTA
NM_000531.6:c.216+99_216+100delinsTA MANE Select	NP_000522.3:n.216+99_216+100delinsTA