Canonical Allele Identifier: CA2693443595

Gene: OTC

Linked Data

• gnomAD v4: X-38381333-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381333_38381334insA , CM000685.2:g.38381333_38381334insA	GRCh38
NC_000023.10:g.38240586_38240587insA , CM000685.1:g.38240586_38240587insA	GRCh37
NC_000023.9:g.38125530_38125531insA	NCBI36
NG_008471.1:g.33851_33852insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.299-9_299-8insA MANE Select	ENSP00000039007.4:n.299-9_299-8insA
ENST00000643344.1:c.*49-9_*49-8insA	ENSP00000496606.1:n.*49-9_*49-8insA
ENST00000039007.4:c.299-9_299-8insA	ENSP00000039007.4:n.299-9_299-8insA
ENST00000465127.1:c.172-284788_172-284787insA	ENSP00000417050.1:n.172-284788_172-284787insA
ENST00000488812.1:n.354-27_354-26insA
NM_000531.5:c.299-9_299-8insA	NP_000522.3:n.299-9_299-8insA
XM_017029556.1:c.299-9_299-8insA	XP_016885045.1:n.299-9_299-8insA
NM_000531.6:c.299-9_299-8insA MANE Select	NP_000522.3:n.299-9_299-8insA