Canonical Allele Identifier: CA2424870881

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367500_38367502delinsAAG , CM000685.2:g.38367500_38367502delinsAAG	GRCh38
NC_000023.10:g.38226753_38226755delinsAAG , CM000685.1:g.38226753_38226755delinsAAG	GRCh37
NC_000023.9:g.38111697_38111699delinsAAG	NCBI36
NG_008471.1:g.20018_20020delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.216+71_216+73delinsAAG MANE Select	ENSP00000039007.4:n.216+71_216+73delinsAAG
ENST00000643344.1:c.216+71_216+73delinsAAG	ENSP00000496606.1:n.216+71_216+73delinsAAG
ENST00000039007.4:c.216+71_216+73delinsAAG	ENSP00000039007.4:n.216+71_216+73delinsAAG
ENST00000465127.1:c.172-298621_172-298619delinsAAG	ENSP00000417050.1:n.172-298621_172-298619delinsAAG
ENST00000488812.1:n.308+71_308+73delinsAAG
NM_000531.5:c.216+71_216+73delinsAAG	NP_000522.3:n.216+71_216+73delinsAAG
XM_017029556.1:c.216+71_216+73delinsAAG	XP_016885045.1:n.216+71_216+73delinsAAG
NM_000531.6:c.216+71_216+73delinsAAG MANE Select	NP_000522.3:n.216+71_216+73delinsAAG