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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:
CA2540061932
Gene: DSPP
HGNC
NCBI
Linked Data
gnomAD v4:
4-87612011-TTGTGTGTGTGTGTG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612028_87612041del , CM000666.2:g.87612028_87612041del
GRCh38
NC_000004.11:g.88533180_88533193del , CM000666.1:g.88533180_88533193del
GRCh37
NC_000004.10:g.88752204_88752217del
NCBI36
NG_011595.1:g.8500_8513del
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-77_52-64del
MANE Select
ENSP00000498766.1:n.52-77_52-64del
ENST00000282478.7:c.52-77_52-64del
ENSP00000282478.7:n.52-77_52-64del
ENST00000399271.5:c.52-77_52-64del
ENSP00000382213.1:n.52-77_52-64del
NM_014208.3:c.52-77_52-64del
MANE Select
NP_055023.2:n.52-77_52-64del
Search 100 bp 5'
Search 100 bp 3'