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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:
CA2260085469
Gene: KRT14
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41583592_41583600delinsTGGTGCGCC , CM000679.2:g.41583592_41583600delinsTGGTGCGCC
GRCh38
NC_000017.10:g.39739844_39739852delinsTGGTGCGCC , CM000679.1:g.39739844_39739852delinsTGGTGCGCC
GRCh37
NC_000017.9:g.36993370_36993378delinsTGGTGCGCC
NCBI36
NG_008624.1:g.8296_8304delinsGGCGCACCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.1004_1012delinsGGCGCACCA
MANE Select
ENSP00000167586.6:p.Arg335=
ENST00000167586.6:c.1004_1012delinsGGCGCACCA
ENSP00000167586.6:p.Arg335=
ENST00000476662.1:n.454_462delinsGGCGCACCA
NM_000526.4:c.1004_1012delinsGGCGCACCA
NP_000517.2:p.Arg335=
NM_000526.5:c.1004_1012delinsGGCGCACCA
MANE Select
NP_000517.3:p.Arg335=
Search 100 bp 5'
Search 100 bp 3'