Canonical Allele Identifier: CA2424884274

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408740_38408741delinsAG , CM000685.2:g.38408740_38408741delinsAG	GRCh38
NC_000023.10:g.38267993_38267994delinsAG , CM000685.1:g.38267993_38267994delinsAG	GRCh37
NC_000023.9:g.38152937_38152938delinsAG	NCBI36
NG_008471.1:g.61258_61259delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.664-2_664-1delinsAG MANE Select	ENSP00000039007.4:n.664-2_664-1delinsAG
ENST00000643344.1:c.*414-2_*414-1delinsAG	ENSP00000496606.1:n.*414-2_*414-1delinsAG
ENST00000039007.4:c.664-2_664-1delinsAG	ENSP00000039007.4:n.664-2_664-1delinsAG
ENST00000465127.1:c.172-257381_172-257380delinsAG	ENSP00000417050.1:n.172-257381_172-257380delinsAG
NM_000531.5:c.664-2_664-1delinsAG	NP_000522.3:n.664-2_664-1delinsAG
XM_017029556.1:c.664-2_664-1delinsAG	XP_016885045.1:n.664-2_664-1delinsAG
NM_000531.6:c.664-2_664-1delinsAG MANE Select	NP_000522.3:n.664-2_664-1delinsAG