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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
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Canonical Allele Identifier:
CA1874273007
Gene: DELEC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.115381508_115381510delinsCCT , CM000671.2:g.115381508_115381510delinsCCT
GRCh38
NC_000009.11:g.118143787_118143789delinsCCT , CM000671.1:g.118143787_118143789delinsCCT
GRCh37
NC_000009.10:g.117183608_117183610delinsCCT
NCBI36
NG_027530.1:g.244691_244693delinsCCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000374016.5:c.13+4793_13+4795delinsCCT
ENSP00000363128.1:n.13+4793_13+4795delinsCCT
NM_017418.2:c.13+4793_13+4795delinsCCT
NP_059114.1:n.13+4793_13+4795delinsCCT
XM_011518753.1:c.13+4793_13+4795delinsCCT
XP_011517055.1:n.13+4793_13+4795delinsCCT
NR_163556.1:n.535+4793_535+4795delinsCCT
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