Canonical Allele Identifier: CA224545
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97161
ClinVar RCV Id: RCV000083394
dbSNP Id: rs111060773

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369878_38369882del , CM000685.2:g.38369878_38369882del GRCh38
NC_000023.10:g.38229131_38229135del , CM000685.1:g.38229131_38229135del GRCh37
NC_000023.9:g.38114075_38114079del NCBI36
NG_008471.1:g.22396_22400del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.298+1_298+5del
ENST00000643344.1:c.298+1_298+5del
ENST00000039007.4:c.298+1_298+5del
ENST00000465127.1:c.172-296243_172-296239del ENSP00000417050.1:n.172-296243_172-296239...
ENST00000488812.1:n.353+38_353+42del
NM_000531.5:c.298+1_298+5del
XM_017029556.1:c.298+1_298+5del
NM_000531.6:c.298+1_298+5del