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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:
CA1339330974
Gene: AGXT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240869279_240869280delinsAT , CM000664.2:g.240869279_240869280delinsAT
GRCh38
NC_000002.11:g.241808696_241808697delinsAT , CM000664.1:g.241808696_241808697delinsAT
GRCh37
NC_000002.10:g.241457369_241457370delinsAT
NCBI36
NG_008005.1:g.5535_5536delinsAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.275_276delinsAT
MANE Select
ENSP00000302620.3:p.Asn92=
ENST00000307503.3:c.275_276delinsAT
ENSP00000302620.3:p.Asn92=
ENST00000472436.1:n.295_296delinsAT
NM_000030.2:c.275_276delinsAT
NP_000021.1:p.Asn92=
XR_924060.1:n.405+953_405+954delinsAT
NM_000030.3:c.275_276delinsAT
MANE Select
NP_000021.1:p.Asn92=
Search 100 bp 5'
Search 100 bp 3'