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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:
CA631744494
Gene: CDKN2D
HGNC
NCBI
Linked Data
dbSNP Id:
rs1364852795
gnomAD v2:
19-10679156-GC-G
gnomAD v3:
19-10568480-GC-G
gnomAD v4:
19-10568480-GC-G
MyVariant Identifiers:
chr19:g.10679157del (hg19)
chr19:g.10568481del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.10568484del , CM000681.2:g.10568484del
GRCh38
NC_000019.9:g.10679160del , CM000681.1:g.10679160del
GRCh37
NC_000019.8:g.10540160del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000393599.3:c.141+32del
MANE Select
ENSP00000377224.1:n.141+32del
ENST00000335766.2:c.141+32del
ENSP00000337056.1:n.141+32del
ENST00000393599.2:c.141+32del
ENSP00000377224.1:n.141+32del
NM_001800.3:c.141+32del
NP_001791.1:n.141+32del
NM_079421.2:c.141+32del
NP_524145.1:n.141+32del
NM_001800.4:c.141+32del
MANE Select
NP_001791.1:n.141+32del
NM_079421.3:c.141+32del
NP_524145.1:n.141+32del
Search 100 bp 5'
Search 100 bp 3'