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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:
CA2649007411
Gene: TBX19
HGNC
NCBI
Linked Data
gnomAD v4:
1-168293008-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.168293010del , CM000663.2:g.168293010del
GRCh38
NC_000001.10:g.168262248del , CM000663.1:g.168262248del
GRCh37
NC_000001.9:g.166528872del
NCBI36
NG_008244.1:g.16971del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367821.8:c.469-134del
MANE Select
ENSP00000356795.3:n.469-134del
ENST00000367821.7:c.469-134del
ENSP00000356795.3:n.469-134del
ENST00000431969.5:c.266-134del
NM_005149.2:c.469-134del
NP_005140.1:n.469-134del
NM_005149.3:c.469-134del
MANE Select
NP_005140.1:n.469-134del
Search 100 bp 5'
Search 100 bp 3'