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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:
CA1339330732
Gene: AGXT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240868867_240868868delinsTG , CM000664.2:g.240868867_240868868delinsTG
GRCh38
NC_000002.11:g.241808284_241808285delinsTG , CM000664.1:g.241808284_241808285delinsTG
GRCh37
NC_000002.10:g.241456957_241456958delinsTG
NCBI36
NG_008005.1:g.5123_5124delinsTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.2_3delinsTG
MANE Select
ENSP00000302620.3:p.Met1=
ENST00000307503.3:c.2_3delinsTG
ENSP00000302620.3:p.Met1=
ENST00000472436.1:n.22_23delinsTG
NM_000030.2:c.2_3delinsTG
NP_000021.1:p.Met1=
XR_924060.1:n.405+1365_405+1366delinsCA
NM_000030.3:c.2_3delinsTG
MANE Select
NP_000021.1:p.Met1=
Search 100 bp 5'
Search 100 bp 3'