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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
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Canonical Allele Identifier:
CA1939014525
Gene: SHTN1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.117067980_117067982delinsTAA , CM000672.2:g.117067980_117067982delinsTAA
GRCh38
NC_000010.10:g.118827491_118827493delinsTAA , CM000672.1:g.118827491_118827493delinsTAA
GRCh37
NC_000010.9:g.118817481_118817483delinsTAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000392901.10:c.-188-19472_-188-19470delinsTTA
ENSP00000376635.4:n.-188-19472_-188-19470...
ENST00000392901.8:c.-188-19472_-188-19470delinsTTA
ENSP00000376635.4:n.-188-19472_-188-19470...
NM_001258300.1:c.-188-19472_-188-19470delinsTTA
NP_001245229.1:n.-188-19472_-188-19470del...
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