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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:
CA645584186
Gene: KRT5
HGNC
NCBI
Linked Data
COSMIC:
COSM4518186
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52519741_52519742delinsTT , CM000674.2:g.52519741_52519742delinsTT
GRCh38
NC_000012.11:g.52913525_52913526delinsTT , CM000674.1:g.52913525_52913526delinsTT
GRCh37
NC_000012.10:g.51199792_51199793delinsTT
NCBI36
NG_008297.1:g.5718_5719delinsAA
Transcript Alleles
HGVS
Amino-acid change
ENST00000252242.9:c.555_555+1delinsAA
ENST00000252242.8:c.555_555+1delinsAA
ENST00000549420.1:c.225_225+1delinsAA
ENST00000552629.5:n.653_653+1delinsAA
NM_000424.3:c.555_555+1delinsAA
NM_000424.4:c.555_555+1delinsAA
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