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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
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Canonical Allele Identifier:
CA2341121177
Gene: KLK2
HGNC
NCBI
KLK3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.50871652_50871653delinsAT , CM000681.2:g.50871652_50871653delinsAT
GRCh38
NC_000019.9:g.51374908_51374909delinsAT , CM000681.1:g.51374908_51374909delinsAT
GRCh37
NC_000019.8:g.56066720_56066721delinsAT
NCBI36
NG_031984.1:g.3220_3221delinsAT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000593493.5:c.-332-1531_-332-1530delinsAT
(KLK2)
ENSP00000472852.1:n.-332-1531_-332-1530delinsAT
ENST00000595375.5:n.149+903_149+904delinsAT
(KLK2)
ENST00000596950.5:n.113+795_113+796delinsAT
(KLK2)
ENST00000597509.5:n.243+795_243+796delinsAT
(KLK2)
XR_935817.1:n.1325-6029_1325-6028delinsAT
(KLK3)
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