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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:
CA2647756186
Gene: SF3B4
HGNC
NCBI
Linked Data
gnomAD v4:
1-149923641-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.149923646del , CM000663.2:g.149923646del
GRCh38
NC_000001.10:g.149895538del , CM000663.1:g.149895538del
GRCh37
NC_000001.9:g.148162162del
NCBI36
NG_032777.1:g.9611del
Transcript Alleles
HGVS
Amino-acid change
ENST00000271628.9:c.1175del
MANE Select
ENSP00000271628.8:p.Pro392HisfsTer?
ENST00000271628.8:c.1175del
ENSP00000271628.8:p.Pro392HisfsTer?
NM_005850.4:c.1175del
NP_005841.1:p.Pro392HisfsTer?
NM_005850.5:c.1175del
MANE Select
NP_005841.1:p.Pro392HisfsTer?
Search 100 bp 5'
Search 100 bp 3'