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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.
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Canonical Allele Identifier:
CA2351158783
Gene: ISM1
HGNC
NCBI
TASP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.13316108_13316120delinsGGATATCACTACA , CM000682.2:g.13316108_13316120delinsGGATATCACTACA
GRCh38
NC_000020.10:g.13296755_13296767delinsGGATATCACTACA , CM000682.1:g.13296755_13296767delinsGGATATCACTACA
GRCh37
NC_000020.9:g.13244755_13244767delinsGGATATCACTACA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_937280.1:n.601-65_601-53delinsTGTAGTGATATCC
XM_017027680.1:c.878-8958_878-8946delinsGGATATCACTACA
(ISM1)
XP_016883169.1:n.878-8958_878-8946delinsGGATATCACTACA
XR_001754319.2:n.1282-65_1282-53delinsTGTAGTGATATCC
(TASP1)
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