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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:
CA1717046848
Gene: BAZ1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1787628951
gnomAD v4:
7-73441837-T-TC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73441841dup , CM000669.2:g.73441841dup
GRCh38
NC_000007.13:g.72856171dup , CM000669.1:g.72856171dup
GRCh37
NC_000007.12:g.72494107dup
NCBI36
NG_027679.1:g.85448dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000339594.9:c.*16-145dup
MANE Select
ENSP00000342434.4:n.*16-145dup
ENST00000339594.8:c.*16-145dup
ENSP00000342434.4:n.*16-145dup
ENST00000404251.1:c.*358dup
ENSP00000385442.1:n.*358dup
NM_032408.3:c.*16-145dup
NP_115784.1:n.*16-145dup
XM_017012773.2:c.*358dup
XP_016868262.1:n.*358dup
NM_032408.4:c.*16-145dup
MANE Select
NP_115784.1:n.*16-145dup
NM_001370402.1:c.*358dup
NP_001357331.1:n.*358dup
Search 100 bp 5'
Search 100 bp 3'