Canonical Allele Identifier: CA2695233312

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403629_38403630insGACC , CM000685.2:g.38403629_38403630insGACC	GRCh38
NC_000023.10:g.38262882_38262883insGACC , CM000685.1:g.38262882_38262883insGACC	GRCh37
NC_000023.9:g.38147826_38147827insGACC	NCBI36
NG_008471.1:g.56147_56148insGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.552_553insGACC MANE Select	ENSP00000039007.4:p.Ser185AspfsTer?
ENST00000643344.1:c.*302_*303insGACC	ENSP00000496606.1:n.*302_*303insGACC
ENST00000039007.4:c.552_553insGACC	ENSP00000039007.4:p.Ser185AspfsTer?
ENST00000465127.1:c.172-262492_172-262491insGACC	ENSP00000417050.1:n.172-262492_172-262491insGACC
ENST00000488812.1:n.589_590insGACC
NM_000531.5:c.552_553insGACC	NP_000522.3:p.Ser185AspfsTer?
XM_017029556.1:c.552_553insGACC	XP_016885045.1:p.Ser185AspfsTer?
NM_000531.6:c.552_553insGACC MANE Select	NP_000522.3:p.Ser185AspfsTer?