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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:
CA1339333079
Gene: AGXT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240873025_240873026delinsAC , CM000664.2:g.240873025_240873026delinsAC
GRCh38
NC_000002.11:g.241812442_241812443delinsAC , CM000664.1:g.241812442_241812443delinsAC
GRCh37
NC_000002.10:g.241461115_241461116delinsAC
NCBI36
NG_008005.1:g.9281_9282delinsAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.571_572delinsAC
MANE Select
ENSP00000302620.3:p.Thr191=
ENST00000307503.3:c.571_572delinsAC
ENSP00000302620.3:p.Thr191=
ENST00000472436.1:n.591_592delinsAC
ENST00000476698.1:n.308_309delinsAC
NM_000030.2:c.571_572delinsAC
NP_000021.1:p.Thr191=
NM_000030.3:c.571_572delinsAC
MANE Select
NP_000021.1:p.Thr191=
Search 100 bp 5'
Search 100 bp 3'