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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:
CA1864935259
Gene: BARX1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.93953780_93953783delinsTTTC , CM000671.2:g.93953780_93953783delinsTTTC
GRCh38
NC_000009.11:g.96716062_96716065delinsTTTC , CM000671.1:g.96716062_96716065delinsTTTC
GRCh37
NC_000009.10:g.95755883_95755886delinsTTTC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000253968.11:c.224-596_224-593delinsGAAA
MANE Select
ENSP00000253968.5:n.224-596_224-593delinsGAAA
ENST00000253968.10:c.224-596_224-593delinsGAAA
ENSP00000253968.5:n.224-596_224-593delinsGAAA
NM_021570.3:c.224-596_224-593delinsGAAA
NP_067545.3:n.224-596_224-593delinsGAAA
NM_021570.4:c.224-596_224-593delinsGAAA
MANE Select
NP_067545.3:n.224-596_224-593delinsGAAA
Search 100 bp 5'
Search 100 bp 3'