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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:
CA2664011491
Gene: AGXT
HGNC
NCBI
Linked Data
gnomAD v4:
2-240877881-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240877885del , CM000664.2:g.240877885del
GRCh38
NC_000002.11:g.241817302del , CM000664.1:g.241817302del
GRCh37
NC_000002.10:g.241465975del
NCBI36
NG_008005.1:g.14141del
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.943-137del
MANE Select
ENSP00000302620.3:n.943-137del
ENST00000307503.3:c.943-137del
ENSP00000302620.3:n.943-137del
ENST00000470255.1:n.721-137del
NM_000030.2:c.943-137del
NP_000021.1:n.943-137del
NM_000030.3:c.943-137del
MANE Select
NP_000021.1:n.943-137del
Search 100 bp 5'
Search 100 bp 3'