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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:
CA2790504963
Gene: SPON1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.13974636_13974637insTTT , CM000673.2:g.13974636_13974637insTTT
GRCh38
NC_000011.9:g.13996183_13996184insTTT , CM000673.1:g.13996183_13996184insTTT
GRCh37
NC_000011.8:g.13952759_13952760insTTT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000576479.4:c.239-8211_239-8210insTTT
MANE Select
ENSP00000460236.1:n.239-8211_239-8210insTTT
ENST00000576479.3:c.239-8211_239-8210insTTT
ENSP00000460236.1:n.239-8211_239-8210insTTT
NM_006108.3:c.239-8211_239-8210insTTT
NP_006099.2:n.239-8211_239-8210insTTT
NM_006108.4:c.239-8211_239-8210insTTT
MANE Select
NP_006099.2:n.239-8211_239-8210insTTT
Search 100 bp 5'
Search 100 bp 3'