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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:
CA772040919
Gene: KRT14
HGNC
NCBI
Linked Data
dbSNP Id:
rs1173502762
gnomAD v3:
17-41586542-CCACCCAAGCCAG-C
gnomAD v4:
17-41586542-CCACCCAAGCCAG-C
MyVariant Identifiers:
chr17:g.39742795_39742806del (hg19)
chr17:g.41586543_41586554del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41586547_41586558del , CM000679.2:g.41586547_41586558del
GRCh38
NC_000017.10:g.39742799_39742810del , CM000679.1:g.39742799_39742810del
GRCh37
NC_000017.9:g.36996325_36996336del
NCBI36
NG_008624.1:g.5342_5353del
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.281_292del
MANE Select
ENSP00000167586.6:p.Ala94_Gly97del
ENST00000167586.6:c.281_292del
ENSP00000167586.6:p.Ala94_Gly97del
NM_000526.4:c.281_292del
NP_000517.2:p.Ala94_Gly97del
NM_000526.5:c.281_292del
MANE Select
NP_000517.3:p.Ala94_Gly97del
Search 100 bp 5'
Search 100 bp 3'