Canonical Allele Identifier: CA2695233290
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367353dup , CM000685.2:g.38367353dup GRCh38
NC_000023.10:g.38226606dup , CM000685.1:g.38226606dup GRCh37
NC_000023.9:g.38111550dup NCBI36
NG_008471.1:g.19871dup

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.140dup MANE Select ENSP00000039007.4:p.Asn47LysfsTer8
ENST00000643344.1:c.140dup ENSP00000496606.1:p.Asn47LysfsTer8
ENST00000039007.4:c.140dup ENSP00000039007.4:p.Asn47LysfsTer8
ENST00000465127.1:c.172-298768dup ENSP00000417050.1:n.172-298768dup
ENST00000488812.1:n.232dup
NM_000531.5:c.140dup NP_000522.3:p.Asn47LysfsTer8
XM_017029556.1:c.140dup XP_016885045.1:p.Asn47LysfsTer8
NM_000531.6:c.140dup MANE Select NP_000522.3:p.Asn47LysfsTer8
Search 100 bp 5'
Search 100 bp 3'