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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:
CA2671358295
Gene: DSPP
HGNC
NCBI
Linked Data
gnomAD v4:
4-87612009-ATTT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612010_87612012del , CM000666.2:g.87612010_87612012del
GRCh38
NC_000004.11:g.88533162_88533164del , CM000666.1:g.88533162_88533164del
GRCh37
NC_000004.10:g.88752186_88752188del
NCBI36
NG_011595.1:g.8482_8484del
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-95_52-93del
MANE Select
ENSP00000498766.1:n.52-95_52-93del
ENST00000282478.7:c.52-95_52-93del
ENSP00000282478.7:n.52-95_52-93del
ENST00000399271.5:c.52-95_52-93del
ENSP00000382213.1:n.52-95_52-93del
NM_014208.3:c.52-95_52-93del
MANE Select
NP_055023.2:n.52-95_52-93del
Search 100 bp 5'
Search 100 bp 3'