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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:
CA2652513918
Gene: CHMP4B
HGNC
NCBI
Linked Data
gnomAD v4:
20-33851091-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.33851093del , CM000682.2:g.33851093del
GRCh38
NC_000020.10:g.32438899del , CM000682.1:g.32438899del
GRCh37
NC_000020.9:g.31902560del
NCBI36
NG_015820.1:g.44790del
Transcript Alleles
HGVS
Amino-acid change
ENST00000217402.3:c.483+27del
MANE Select
ENSP00000217402.2:n.483+27del
ENST00000217402.2:c.483+27del
ENSP00000217402.2:n.483+27del
NM_176812.4:c.483+27del
NP_789782.1:n.483+27del
NM_176812.5:c.483+27del
MANE Select
NP_789782.1:n.483+27del
Search 100 bp 5'
Search 100 bp 3'