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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:
CA2637837224
Gene: KRT14
HGNC
NCBI
Linked Data
gnomAD v4:
17-41586284-GTGCCTTCTGCTGCCCATTCACCCACCT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41586287_41586313del , CM000679.2:g.41586287_41586313del
GRCh38
NC_000017.10:g.39742539_39742565del , CM000679.1:g.39742539_39742565del
GRCh37
NC_000017.9:g.36996065_36996091del
NCBI36
NG_008624.1:g.5585_5611del
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.524_525+25del
ENST00000167586.6:c.524_525+25del
NM_000526.4:c.524_525+25del
NM_000526.5:c.524_525+25del
Search 100 bp 5'
Search 100 bp 3'