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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA224738
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97289
ClinVar RCV Id:
RCV000083533
dbSNP Id:
rs67839039
MyVariant Identifiers:
chrX:g.38267994del (hg19)
chrX:g.38408741del (hg38)
PubMed:
PMID:9266388
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.38408743del , CM000685.2:g.38408743del
GRCh38
NC_000023.10:g.38267996del , CM000685.1:g.38267996del
GRCh37
NC_000023.9:g.38152940del
NCBI36
NG_008471.1:g.61261del
Transcript Alleles
HGVS
Amino-acid change
ENST00000039007.5:c.665del
ENST00000643344.1:c.*415del
ENST00000039007.4:c.665del
ENST00000465127.1:c.172-257378del
ENSP00000417050.1:n.172-257378del
NM_000531.5:c.665del
XM_017029556.1:c.665del
NM_000531.6:c.665del
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