Canonical Allele Identifier: CA916083891
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 836194
ClinVar RCV Id: RCV001037257
dbSNP Id: rs2068315608
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369880_38369883del , CM000685.2:g.38369880_38369883del GRCh38
NC_000023.10:g.38229133_38229136del , CM000685.1:g.38229133_38229136del GRCh37
NC_000023.9:g.38114077_38114080del NCBI36
NG_008471.1:g.22398_22401del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.298+3_298+6del MANE Select ENSP00000039007.4:n.298+3_298+6del
ENST00000643344.1:c.298+3_298+6del ENSP00000496606.1:n.298+3_298+6del
ENST00000039007.4:c.298+3_298+6del ENSP00000039007.4:n.298+3_298+6del
ENST00000465127.1:c.172-296241_172-296238del ENSP00000417050.1:n.172-296241_172-296238...
ENST00000488812.1:n.353+40_353+43del
NM_000531.5:c.298+3_298+6del NP_000522.3:n.298+3_298+6del
XM_017029556.1:c.298+3_298+6del XP_016885045.1:n.298+3_298+6del
NM_000531.6:c.298+3_298+6del MANE Select NP_000522.3:n.298+3_298+6del
Search 100 bp 5'
Search 100 bp 3'