Canonical Allele Identifier: CA224756
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408803_38408818del , CM000685.2:g.38408803_38408818del GRCh38
NC_000023.10:g.38268056_38268071del , CM000685.1:g.38268056_38268071del GRCh37
NC_000023.9:g.38153000_38153015del NCBI36
NG_008471.1:g.61321_61336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.717+8_717+23del MANE Select ENSP00000039007.4:n.717+8_717+23del
ENST00000643344.1:c.*467+8_*467+23del ENSP00000496606.1:n.*467+8_*467+23del
ENST00000039007.4:c.717+8_717+23del ENSP00000039007.4:n.717+8_717+23del
ENST00000465127.1:c.172-257318_172-257303del ENSP00000417050.1:n.172-257318_172-257303del
NM_000531.5:c.717+8_717+23del NP_000522.3:n.717+8_717+23del
XM_017029556.1:c.717+8_717+23del XP_016885045.1:n.717+8_717+23del
NM_000531.6:c.717+8_717+23del MANE Select NP_000522.3:n.717+8_717+23del
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