Canonical Allele Identifier: CA2695233286
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367312_38367321delinsGTGCA , CM000685.2:g.38367312_38367321delinsGTGCA GRCh38
NC_000023.10:g.38226565_38226574delinsGTGCA , CM000685.1:g.38226565_38226574delinsGTGCA GRCh37
NC_000023.9:g.38111509_38111518delinsGTGCA NCBI36
NG_008471.1:g.19830_19839delinsGTGCA

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.99_108delinsGTGCA MANE Select ENSP00000039007.4:p.Asn33LysfsTer7
ENST00000643344.1:c.99_108delinsGTGCA ENSP00000496606.1:p.Asn33LysfsTer7
ENST00000039007.4:c.99_108delinsGTGCA ENSP00000039007.4:p.Asn33LysfsTer7
ENST00000465127.1:c.172-298809_172-298800delinsGTGCA ENSP00000417050.1:n.172-298809_172-298800delinsGTGCA
ENST00000488812.1:n.191_200delinsGTGCA
NM_000531.5:c.99_108delinsGTGCA NP_000522.3:p.Asn33LysfsTer7
XM_017029556.1:c.99_108delinsGTGCA XP_016885045.1:p.Asn33LysfsTer7
NM_000531.6:c.99_108delinsGTGCA MANE Select NP_000522.3:p.Asn33LysfsTer7
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