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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:
CA2664009456
Gene: AGXT
HGNC
NCBI
Linked Data
gnomAD v4:
2-240875897-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240875900del , CM000664.2:g.240875900del
GRCh38
NC_000002.11:g.241815317del , CM000664.1:g.241815317del
GRCh37
NC_000002.10:g.241463990del
NCBI36
NG_008005.1:g.12156del
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.777-35del
MANE Select
ENSP00000302620.3:n.777-35del
ENST00000307503.3:c.777-35del
ENSP00000302620.3:n.777-35del
ENST00000476698.1:n.429-35del
NM_000030.2:c.777-35del
NP_000021.1:n.777-35del
NM_000030.3:c.777-35del
MANE Select
NP_000021.1:n.777-35del
Search 100 bp 5'
Search 100 bp 3'