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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:
CA2637837575
Gene: KRT14
HGNC
NCBI
Linked Data
gnomAD v4:
17-41586652-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41586657del , CM000679.2:g.41586657del
GRCh38
NC_000017.10:g.39742909del , CM000679.1:g.39742909del
GRCh37
NC_000017.9:g.36996435del
NCBI36
NG_008624.1:g.5243del
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.182del
MANE Select
ENSP00000167586.6:p.Gly61GlufsTer?
ENST00000167586.6:c.182del
ENSP00000167586.6:p.Gly61GlufsTer?
NM_000526.4:c.182del
NP_000517.2:p.Gly61GlufsTer?
NM_000526.5:c.182del
MANE Select
NP_000517.3:p.Gly61GlufsTer?
Search 100 bp 5'
Search 100 bp 3'