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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:
CA2573895104
Gene: SF3B4
HGNC
NCBI
Linked Data
gnomAD v4:
1-149926298-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.149926301del , CM000663.2:g.149926301del
GRCh38
NC_000001.10:g.149898193del , CM000663.1:g.149898193del
GRCh37
NC_000001.9:g.148164817del
NCBI36
NG_032777.1:g.6954del
Transcript Alleles
HGVS
Amino-acid change
ENST00000271628.9:c.706+77del
MANE Select
ENSP00000271628.8:n.706+77del
ENST00000271628.8:c.706+77del
ENSP00000271628.8:n.706+77del
NM_005850.4:c.706+77del
NP_005841.1:n.706+77del
NM_005850.5:c.706+77del
MANE Select
NP_005841.1:n.706+77del
Search 100 bp 5'
Search 100 bp 3'