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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:
CA1474384248
Gene: DSPP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612012_87612013delinsTG , CM000666.2:g.87612012_87612013delinsTG
GRCh38
NC_000004.11:g.88533164_88533165delinsTG , CM000666.1:g.88533164_88533165delinsTG
GRCh37
NC_000004.10:g.88752188_88752189delinsTG
NCBI36
NG_011595.1:g.8484_8485delinsTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-93_52-92delinsTG
MANE Select
ENSP00000498766.1:n.52-93_52-92delinsTG
ENST00000282478.7:c.52-93_52-92delinsTG
ENSP00000282478.7:n.52-93_52-92delinsTG
ENST00000399271.5:c.52-93_52-92delinsTG
ENSP00000382213.1:n.52-93_52-92delinsTG
NM_014208.3:c.52-93_52-92delinsTG
MANE Select
NP_055023.2:n.52-93_52-92delinsTG
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