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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:
CA2609232403
Gene: DKK1
HGNC
NCBI
Linked Data
gnomAD v4:
10-52315370-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.52315372del , CM000672.2:g.52315372del
GRCh38
NC_000010.10:g.54075132del , CM000672.1:g.54075132del
GRCh37
NC_000010.9:g.53745138del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000373970.4:c.406+287del
MANE Select
ENSP00000363081.3:n.406+287del
ENST00000373970.3:c.406+287del
ENSP00000363081.3:n.406+287del
ENST00000467359.5:n.406+287del
ENST00000476752.1:n.55+66del
ENST00000494277.5:n.29+287del
NM_012242.2:c.406+287del
NP_036374.1:n.406+287del
NM_012242.3:c.406+287del
NP_036374.1:n.406+287del
NM_012242.4:c.406+287del
MANE Select
NP_036374.1:n.406+287del
Search 100 bp 5'
Search 100 bp 3'