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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:
CA2637837297
Gene: KRT14
HGNC
NCBI
Linked Data
gnomAD v4:
17-41586486-CCTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41586489_41586491del , CM000679.2:g.41586489_41586491del
GRCh38
NC_000017.10:g.39742741_39742743del , CM000679.1:g.39742741_39742743del
GRCh37
NC_000017.9:g.36996267_36996269del
NCBI36
NG_008624.1:g.5407_5409del
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.346_348del
MANE Select
ENSP00000167586.6:p.Lys116del
ENST00000167586.6:c.346_348del
ENSP00000167586.6:p.Lys116del
NM_000526.4:c.346_348del
NP_000517.2:p.Lys116del
NM_000526.5:c.346_348del
MANE Select
NP_000517.3:p.Lys116del
Search 100 bp 5'
Search 100 bp 3'