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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:
CA2573895119
Gene: SF3B4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.149926309_149926311del , CM000663.2:g.149926309_149926311del
GRCh38
NC_000001.10:g.149898201_149898203del , CM000663.1:g.149898201_149898203del
GRCh37
NC_000001.9:g.148164825_148164827del
NCBI36
NG_032777.1:g.6944_6946del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000271628.9:c.706+67_706+69del
MANE Select
ENSP00000271628.8:n.706+67_706+69del
ENST00000271628.8:c.706+67_706+69del
ENSP00000271628.8:n.706+67_706+69del
NM_005850.4:c.706+67_706+69del
NP_005841.1:n.706+67_706+69del
NM_005850.5:c.706+67_706+69del
MANE Select
NP_005841.1:n.706+67_706+69del
Search 100 bp 5'
Search 100 bp 3'