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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:
CA2554468137
Gene: KRT14
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41583510del , CM000679.2:g.41583510del
GRCh38
NC_000017.10:g.39739762del , CM000679.1:g.39739762del
GRCh37
NC_000017.9:g.36993288del
NCBI36
NG_008624.1:g.8386del
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.1053+41del
MANE Select
ENSP00000167586.6:n.1053+41del
ENST00000167586.6:c.1053+41del
ENSP00000167586.6:n.1053+41del
ENST00000476662.1:n.503+41del
NM_000526.4:c.1053+41del
NP_000517.2:n.1053+41del
NM_000526.5:c.1053+41del
MANE Select
NP_000517.3:n.1053+41del
Search 100 bp 5'
Search 100 bp 3'