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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:
CA2577374455
Gene: CHMP4B
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.33850905del , CM000682.2:g.33850905del
GRCh38
NC_000020.10:g.32438711del , CM000682.1:g.32438711del
GRCh37
NC_000020.9:g.31902372del
NCBI36
NG_015820.1:g.44602del
Transcript Alleles
HGVS
Amino-acid change
ENST00000217402.3:c.369-47del
MANE Select
ENSP00000217402.2:n.369-47del
ENST00000217402.2:c.369-47del
ENSP00000217402.2:n.369-47del
NM_176812.4:c.369-47del
NP_789782.1:n.369-47del
NM_176812.5:c.369-47del
MANE Select
NP_789782.1:n.369-47del
Search 100 bp 5'
Search 100 bp 3'