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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:
CA2637837232
Gene: KRT14
HGNC
NCBI
Linked Data
gnomAD v4:
17-41586304-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41586307del , CM000679.2:g.41586307del
GRCh38
NC_000017.10:g.39742559del , CM000679.1:g.39742559del
GRCh37
NC_000017.9:g.36996085del
NCBI36
NG_008624.1:g.5591del
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.525+5del
MANE Select
ENSP00000167586.6:n.525+5del
ENST00000167586.6:c.525+5del
ENSP00000167586.6:n.525+5del
NM_000526.4:c.525+5del
NP_000517.2:n.525+5del
NM_000526.5:c.525+5del
MANE Select
NP_000517.3:n.525+5del
Search 100 bp 5'
Search 100 bp 3'