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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:
CA1864935246
Gene: BARX1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.93953750_93953751delinsTC , CM000671.2:g.93953750_93953751delinsTC
GRCh38
NC_000009.11:g.96716032_96716033delinsTC , CM000671.1:g.96716032_96716033delinsTC
GRCh37
NC_000009.10:g.95755853_95755854delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000253968.11:c.224-564_224-563delinsGA
MANE Select
ENSP00000253968.5:n.224-564_224-563delinsGA
ENST00000253968.10:c.224-564_224-563delinsGA
ENSP00000253968.5:n.224-564_224-563delinsGA
NM_021570.3:c.224-564_224-563delinsGA
NP_067545.3:n.224-564_224-563delinsGA
NM_021570.4:c.224-564_224-563delinsGA
MANE Select
NP_067545.3:n.224-564_224-563delinsGA
Search 100 bp 5'
Search 100 bp 3'