Canonical Allele Identifier: CA2424885207
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411880_38411884delinsTCTGA , CM000685.2:g.38411880_38411884delinsTCTGA GRCh38
NC_000023.10:g.38271133_38271137delinsTCTGA , CM000685.1:g.38271133_38271137delinsTCTGA GRCh37
NC_000023.9:g.38156077_38156081delinsTCTGA NCBI36
NG_008471.1:g.64398_64402delinsTCTGA

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.886_890delinsTCTGA MANE Select ENSP00000039007.4:p.Ser296=
ENST00000643344.1:c.*636_*640delinsTCTGA ENSP00000496606.1:n.*636_*640delinsTCTGA
ENST00000039007.4:c.886_890delinsTCTGA ENSP00000039007.4:p.Ser296=
ENST00000465127.1:c.172-254241_172-254237delinsTCTGA ENSP00000417050.1:n.172-254241_172-254237delinsTCTGA
NM_000531.5:c.886_890delinsTCTGA NP_000522.3:p.Ser296=
NM_000531.6:c.886_890delinsTCTGA MANE Select NP_000522.3:p.Ser296=
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