Canonical Allele Identifier: CA2693443599
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381338_38381343del , CM000685.2:g.38381338_38381343del GRCh38
NC_000023.10:g.38240591_38240596del , CM000685.1:g.38240591_38240596del GRCh37
NC_000023.9:g.38125535_38125540del NCBI36
NG_008471.1:g.33856_33861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.299-4_300del
ENST00000643344.1:c.*49-4_*50del
ENST00000039007.4:c.299-4_300del
ENST00000465127.1:c.172-284783_172-284778del ENSP00000417050.1:n.172-284783_172-284778del
ENST00000488812.1:n.354-22_354-17del
NM_000531.5:c.299-4_300del
XM_017029556.1:c.299-4_300del
NM_000531.6:c.299-4_300del