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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:
CA2671358299
Gene: DSPP
HGNC
NCBI
Linked Data
gnomAD v4:
4-87612011-T-TG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612011_87612012insG , CM000666.2:g.87612011_87612012insG
GRCh38
NC_000004.11:g.88533163_88533164insG , CM000666.1:g.88533163_88533164insG
GRCh37
NC_000004.10:g.88752187_88752188insG
NCBI36
NG_011595.1:g.8483_8484insG
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-94_52-93insG
MANE Select
ENSP00000498766.1:n.52-94_52-93insG
ENST00000282478.7:c.52-94_52-93insG
ENSP00000282478.7:n.52-94_52-93insG
ENST00000399271.5:c.52-94_52-93insG
ENSP00000382213.1:n.52-94_52-93insG
NM_014208.3:c.52-94_52-93insG
MANE Select
NP_055023.2:n.52-94_52-93insG
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