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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:
CA2671358277
Gene: DSPP
HGNC
NCBI
Linked Data
gnomAD v4:
4-87611991-CTTCATGGAGGGAAGAA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87611993_87612008del , CM000666.2:g.87611993_87612008del
GRCh38
NC_000004.11:g.88533145_88533160del , CM000666.1:g.88533145_88533160del
GRCh37
NC_000004.10:g.88752169_88752184del
NCBI36
NG_011595.1:g.8465_8480del
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-112_52-97del
MANE Select
ENSP00000498766.1:n.52-112_52-97del
ENST00000282478.7:c.52-112_52-97del
ENSP00000282478.7:n.52-112_52-97del
ENST00000399271.5:c.52-112_52-97del
ENSP00000382213.1:n.52-112_52-97del
NM_014208.3:c.52-112_52-97del
MANE Select
NP_055023.2:n.52-112_52-97del
Search 100 bp 5'
Search 100 bp 3'