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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:
CA2582401907
Gene: CDKN2D
HGNC
NCBI
Linked Data
gnomAD v4:
19-10568382-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.10568385del , CM000681.2:g.10568385del
GRCh38
NC_000019.9:g.10679061del , CM000681.1:g.10679061del
GRCh37
NC_000019.8:g.10540061del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000393599.3:c.141+130del
MANE Select
ENSP00000377224.1:n.141+130del
ENST00000335766.2:c.141+130del
ENSP00000337056.1:n.141+130del
ENST00000393599.2:c.141+130del
ENSP00000377224.1:n.141+130del
NM_001800.3:c.141+130del
NP_001791.1:n.141+130del
NM_079421.2:c.141+130del
NP_524145.1:n.141+130del
NM_001800.4:c.141+130del
MANE Select
NP_001791.1:n.141+130del
NM_079421.3:c.141+130del
NP_524145.1:n.141+130del
Search 100 bp 5'
Search 100 bp 3'