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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:
CA1339330942
Gene: AGXT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240869219_240869220delinsAC , CM000664.2:g.240869219_240869220delinsAC
GRCh38
NC_000002.11:g.241808636_241808637delinsAC , CM000664.1:g.241808636_241808637delinsAC
GRCh37
NC_000002.10:g.241457309_241457310delinsAC
NCBI36
NG_008005.1:g.5475_5476delinsAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.215_216delinsAC
MANE Select
ENSP00000302620.3:p.Asn72=
ENST00000307503.3:c.215_216delinsAC
ENSP00000302620.3:p.Asn72=
ENST00000472436.1:n.235_236delinsAC
NM_000030.2:c.215_216delinsAC
NP_000021.1:p.Asn72=
XR_924060.1:n.405+1013_405+1014delinsGT
NM_000030.3:c.215_216delinsAC
MANE Select
NP_000021.1:p.Asn72=
Search 100 bp 5'
Search 100 bp 3'