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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:
CA1874273017
Gene: DELEC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.115381526_115381528delinsCAT , CM000671.2:g.115381526_115381528delinsCAT
GRCh38
NC_000009.11:g.118143805_118143807delinsCAT , CM000671.1:g.118143805_118143807delinsCAT
GRCh37
NC_000009.10:g.117183626_117183628delinsCAT
NCBI36
NG_027530.1:g.244709_244711delinsCAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000374016.5:c.13+4811_13+4813delinsCAT
ENSP00000363128.1:n.13+4811_13+4813delinsCAT
NM_017418.2:c.13+4811_13+4813delinsCAT
NP_059114.1:n.13+4811_13+4813delinsCAT
XM_011518753.1:c.13+4811_13+4813delinsCAT
XP_011517055.1:n.13+4811_13+4813delinsCAT
NR_163556.1:n.535+4811_535+4813delinsCAT
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