Canonical Allele Identifier: CA2693442162
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367189_38367190del , CM000685.2:g.38367189_38367190del GRCh38
NC_000023.10:g.38226442_38226443del , CM000685.1:g.38226442_38226443del GRCh37
NC_000023.9:g.38111386_38111387del NCBI36
NG_008471.1:g.19707_19708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.78-102_78-101del MANE Select ENSP00000039007.4:n.78-102_78-101del
ENST00000643344.1:c.78-102_78-101del ENSP00000496606.1:n.78-102_78-101del
ENST00000039007.4:c.78-102_78-101del ENSP00000039007.4:n.78-102_78-101del
ENST00000465127.1:c.172-298932_172-298931del ENSP00000417050.1:n.172-298932_172-298931del
ENST00000488812.1:n.170-102_170-101del
NM_000531.5:c.78-102_78-101del NP_000522.3:n.78-102_78-101del
XM_017029556.1:c.78-102_78-101del XP_016885045.1:n.78-102_78-101del
NM_000531.6:c.78-102_78-101del MANE Select NP_000522.3:n.78-102_78-101del