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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:
CA2695196626
Gene: DSPP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612011_87612013delinsTTG , CM000666.2:g.87612011_87612013delinsTTG
GRCh38
NC_000004.11:g.88533163_88533165delinsTTG , CM000666.1:g.88533163_88533165delinsTTG
GRCh37
NC_000004.10:g.88752187_88752189delinsTTG
NCBI36
NG_011595.1:g.8483_8485delinsTTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-94_52-92delinsTTG
MANE Select
ENSP00000498766.1:n.52-94_52-92delinsTTG
ENST00000282478.7:c.52-94_52-92delinsTTG
ENSP00000282478.7:n.52-94_52-92delinsTTG
ENST00000399271.5:c.52-94_52-92delinsTTG
ENSP00000382213.1:n.52-94_52-92delinsTTG
NM_014208.3:c.52-94_52-92delinsTTG
MANE Select
NP_055023.2:n.52-94_52-92delinsTTG
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