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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:
CA2671358292
Gene: DSPP
HGNC
NCBI
Linked Data
gnomAD v4:
4-87612007-ATATTTGTGTGTG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612009_87612020del , CM000666.2:g.87612009_87612020del
GRCh38
NC_000004.11:g.88533161_88533172del , CM000666.1:g.88533161_88533172del
GRCh37
NC_000004.10:g.88752185_88752196del
NCBI36
NG_011595.1:g.8481_8492del
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-96_52-85del
MANE Select
ENSP00000498766.1:n.52-96_52-85del
ENST00000282478.7:c.52-96_52-85del
ENSP00000282478.7:n.52-96_52-85del
ENST00000399271.5:c.52-96_52-85del
ENSP00000382213.1:n.52-96_52-85del
NM_014208.3:c.52-96_52-85del
MANE Select
NP_055023.2:n.52-96_52-85del
Search 100 bp 5'
Search 100 bp 3'