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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
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Canonical Allele Identifier:
CA2014090854
Gene: TAPBPL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6471249_6471266delinsGCTTTCGTTCATTCGTTT , CM000674.2:g.6471249_6471266delinsGCTTTCGTTCATTCGTTT
GRCh38
NC_000012.11:g.6580415_6580432delinsGCTTTCGTTCATTCGTTT , CM000674.1:g.6580415_6580432delinsGCTTTCGTTCATTCGTTT
GRCh37
NC_000012.10:g.6450676_6450693delinsGCTTTCGTTCATTCGTTT
NCBI36
NG_042188.1:g.4634_4651delinsAAACGAATGAACGAAAGC
NG_042188.2:g.4634_4651delinsAAACGAATGAACGAAAGC
Transcript Alleles
HGVS
Amino-acid Change
XR_001748777.2:n.2516_2533delinsGCTTTCGTTCATTCGTTT
XR_001748778.2:n.2513_2530delinsGCTTTCGTTCATTCGTTT
Search 100 bp 5'
Search 100 bp 3'