Canonical Allele Identifier: CA2820489224
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369991dup , CM000685.2:g.38369991dup GRCh38
NC_000023.10:g.38229244dup , CM000685.1:g.38229244dup GRCh37
NC_000023.9:g.38114188dup NCBI36
NG_008471.1:g.22509dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+114dup MANE Select ENSP00000039007.4:n.298+114dup
ENST00000643344.1:c.298+114dup ENSP00000496606.1:n.298+114dup
ENST00000039007.4:c.298+114dup ENSP00000039007.4:n.298+114dup
ENST00000465127.1:c.172-296130dup ENSP00000417050.1:n.172-296130dup
ENST00000488812.1:n.353+151dup
NM_000531.5:c.298+114dup NP_000522.3:n.298+114dup
XM_017029556.1:c.298+114dup XP_016885045.1:n.298+114dup
NM_000531.6:c.298+114dup MANE Select NP_000522.3:n.298+114dup
Search 100 bp 5'
Search 100 bp 3'