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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:
CA1339336161
Gene: AGXT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240878782_240878783delinsGA , CM000664.2:g.240878782_240878783delinsGA
GRCh38
NC_000002.11:g.241818199_241818200delinsGA , CM000664.1:g.241818199_241818200delinsGA
GRCh37
NC_000002.10:g.241466872_241466873delinsGA
NCBI36
NG_008005.1:g.15038_15039delinsGA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000307503.4:c.1140_1141delinsGA
MANE Select
ENSP00000302620.3:p.Leu380=
ENST00000307503.3:c.1140_1141delinsGA
ENSP00000302620.3:p.Leu380=
ENST00000470255.1:n.918_919delinsGA
NM_000030.2:c.1140_1141delinsGA
NP_000021.1:p.Leu380=
NM_000030.3:c.1140_1141delinsGA
MANE Select
NP_000021.1:p.Leu380=
Search 100 bp 5'
Search 100 bp 3'