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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:
CA2647757268
Gene: SF3B4
HGNC
NCBI
Linked Data
gnomAD v4:
1-149926287-CCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.149926292_149926331del , CM000663.2:g.149926292_149926331del
GRCh38
NC_000001.10:g.149898184_149898223del , CM000663.1:g.149898184_149898223del
GRCh37
NC_000001.9:g.148164808_148164847del
NCBI36
NG_032777.1:g.6926_6965del
Transcript Alleles
HGVS
Amino-acid change
ENST00000271628.9:c.706+49_706+88del
MANE Select
ENSP00000271628.8:n.706+49_706+88del
ENST00000271628.8:c.706+49_706+88del
ENSP00000271628.8:n.706+49_706+88del
NM_005850.4:c.706+49_706+88del
NP_005841.1:n.706+49_706+88del
NM_005850.5:c.706+49_706+88del
MANE Select
NP_005841.1:n.706+49_706+88del
Search 100 bp 5'
Search 100 bp 3'