Canonical Allele Identifier: CA2693442170

Gene: OTC

Linked Data

• gnomAD v4: X-38367191-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367194_38367196del , CM000685.2:g.38367194_38367196del	GRCh38
NC_000023.10:g.38226447_38226449del , CM000685.1:g.38226447_38226449del	GRCh37
NC_000023.9:g.38111391_38111393del	NCBI36
NG_008471.1:g.19712_19714del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.78-97_78-95del MANE Select	ENSP00000039007.4:n.78-97_78-95del
ENST00000643344.1:c.78-97_78-95del	ENSP00000496606.1:n.78-97_78-95del
ENST00000039007.4:c.78-97_78-95del	ENSP00000039007.4:n.78-97_78-95del
ENST00000465127.1:c.172-298927_172-298925del	ENSP00000417050.1:n.172-298927_172-298925...
ENST00000488812.1:n.170-97_170-95del
NM_000531.5:c.78-97_78-95del	NP_000522.3:n.78-97_78-95del
XM_017029556.1:c.78-97_78-95del	XP_016885045.1:n.78-97_78-95del
NM_000531.6:c.78-97_78-95del MANE Select	NP_000522.3:n.78-97_78-95del