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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:
CA2611159226
Gene: BAG3
HGNC
NCBI
Linked Data
gnomAD v4:
10-119651630-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.119651632del , CM000672.2:g.119651632del
GRCh38
NC_000010.10:g.121411144del , CM000672.1:g.121411144del
GRCh37
NC_000010.9:g.121401134del
NCBI36
NG_016125.1:g.5263del , LRG_742:g.5263del
Transcript Alleles
HGVS
Amino-acid change
ENST00000369085.8:c.-44del
MANE Select
ENSP00000358081.4:n.-44del
ENST00000369085.7:c.-44del
ENSP00000358081.3:n.-44del
NM_004281.3:c.-44del , LRG_742t1:c.-44del
NP_004272.2:n.-44del
XM_005270287.1:c.-44del
XP_005270344.1:n.-44del
XM_005270287.2:c.-44del
XP_005270344.1:n.-44del
NM_004281.4:c.-44del
MANE Select
NP_004272.2:n.-44del
Search 100 bp 5'
Search 100 bp 3'