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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:
CA1205613294
Gene: TBX19
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.168291140_168291142delinsGTT , CM000663.2:g.168291140_168291142delinsGTT
GRCh38
NC_000001.10:g.168260378_168260380delinsGTT , CM000663.1:g.168260378_168260380delinsGTT
GRCh37
NC_000001.9:g.166527002_166527004delinsGTT
NCBI36
NG_008244.1:g.15101_15103delinsGTT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367821.8:c.204-20_204-18delinsGTT
MANE Select
ENSP00000356795.3:n.204-20_204-18delinsGTT
ENST00000367821.7:c.204-20_204-18delinsGTT
ENSP00000356795.3:n.204-20_204-18delinsGTT
NM_005149.2:c.204-20_204-18delinsGTT
NP_005140.1:n.204-20_204-18delinsGTT
NM_005149.3:c.204-20_204-18delinsGTT
MANE Select
NP_005140.1:n.204-20_204-18delinsGTT
Search 100 bp 5'
Search 100 bp 3'