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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:
CA2766252994
Gene: KDM5D
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19703886del , CM000686.2:g.19703886del
GRCh38
NC_000024.9:g.21865772del , CM000686.1:g.21865772del
GRCh37
NC_000024.8:g.20325160del
NCBI36
NG_032920.1:g.46055del
Transcript Alleles
HGVS
Amino-acid change
ENST00000317961.9:c.*2110del
MANE Select
ENSP00000322408.4:n.*2110del
ENST00000469599.6:n.5481del
NM_001146706.2:c.*2110del
NP_001140178.1:n.*2110del
NM_004653.5:c.*2110del
MANE Select
NP_004644.2:n.*2110del
NM_001146705.2:c.*2110del
NP_001140177.1:n.*2110del
Search 100 bp 5'
Search 100 bp 3'