Canonical Allele Identifier: CA2738493928

Gene: OTC

Linked Data

• dbSNP Id: rs2147324879

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369728del , CM000685.2:g.38369728del	GRCh38
NC_000023.10:g.38228981del , CM000685.1:g.38228981del	GRCh37
NC_000023.9:g.38113925del	NCBI36
NG_008471.1:g.22246del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.217-68del MANE Select	ENSP00000039007.4:n.217-68del
ENST00000643344.1:c.217-68del	ENSP00000496606.1:n.217-68del
ENST00000039007.4:c.217-68del	ENSP00000039007.4:n.217-68del
ENST00000465127.1:c.172-296393del	ENSP00000417050.1:n.172-296393del
ENST00000488812.1:n.309-68del
NM_000531.5:c.217-68del	NP_000522.3:n.217-68del
XM_017029556.1:c.217-68del	XP_016885045.1:n.217-68del
NM_000531.6:c.217-68del MANE Select	NP_000522.3:n.217-68del