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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:
CA1339333074
Gene: AGXT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240873021_240873022delinsCG , CM000664.2:g.240873021_240873022delinsCG
GRCh38
NC_000002.11:g.241812438_241812439delinsCG , CM000664.1:g.241812438_241812439delinsCG
GRCh37
NC_000002.10:g.241461111_241461112delinsCG
NCBI36
NG_008005.1:g.9277_9278delinsCG
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.567_568delinsCG
MANE Select
ENSP00000302620.3:p.Gly189=
ENST00000307503.3:c.567_568delinsCG
ENSP00000302620.3:p.Gly189=
ENST00000472436.1:n.587_588delinsCG
ENST00000476698.1:n.304_305delinsCG
NM_000030.2:c.567_568delinsCG
NP_000021.1:p.Gly189=
NM_000030.3:c.567_568delinsCG
MANE Select
NP_000021.1:p.Gly189=
Search 100 bp 5'
Search 100 bp 3'