Canonical Allele Identifier: CA640863197
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs755821521

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367185_38367188del , CM000685.2:g.38367185_38367188del GRCh38
NC_000023.10:g.38226438_38226441del , CM000685.1:g.38226438_38226441del GRCh37
NC_000023.9:g.38111382_38111385del NCBI36
NG_008471.1:g.19703_19706del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-106_78-103del MANE Select ENSP00000039007.4:n.78-106_78-103del
ENST00000643344.1:c.78-106_78-103del ENSP00000496606.1:n.78-106_78-103del
ENST00000039007.4:c.78-106_78-103del ENSP00000039007.4:n.78-106_78-103del
ENST00000465127.1:c.172-298936_172-298933del ENSP00000417050.1:n.172-298936_172-298933...
ENST00000488812.1:n.170-106_170-103del
NM_000531.5:c.78-106_78-103del NP_000522.3:n.78-106_78-103del
XM_017029556.1:c.78-106_78-103del XP_016885045.1:n.78-106_78-103del
NM_000531.6:c.78-106_78-103del MANE Select NP_000522.3:n.78-106_78-103del