Canonical Allele Identifier: CA2424871664
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369821_38369824delinsCCTT , CM000685.2:g.38369821_38369824delinsCCTT GRCh38
NC_000023.10:g.38229074_38229077delinsCCTT , CM000685.1:g.38229074_38229077delinsCCTT GRCh37
NC_000023.9:g.38114018_38114021delinsCCTT NCBI36
NG_008471.1:g.22339_22342delinsCCTT

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.242_245delinsCCTT MANE Select ENSP00000039007.4:p.Ser81=
ENST00000643344.1:c.242_245delinsCCTT ENSP00000496606.1:p.Ser81=
ENST00000039007.4:c.242_245delinsCCTT ENSP00000039007.4:p.Ser81=
ENST00000465127.1:c.172-296300_172-296297delinsCCTT ENSP00000417050.1:n.172-296300_172-296297delinsCCTT
ENST00000488812.1:n.334_337delinsCCTT
NM_000531.5:c.242_245delinsCCTT NP_000522.3:p.Ser81=
XM_017029556.1:c.242_245delinsCCTT XP_016885045.1:p.Ser81=
NM_000531.6:c.242_245delinsCCTT MANE Select NP_000522.3:p.Ser81=
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Search 100 bp 3'