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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
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Canonical Allele Identifier:
CA1307074055
Gene: GAD1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.170814136_170814141delinsAGGTTT , CM000664.2:g.170814136_170814141delinsAGGTTT
GRCh38
NC_000002.11:g.171670646_171670651delinsAGGTTT , CM000664.1:g.171670646_171670651delinsAGGTTT
GRCh37
NC_000002.10:g.171378892_171378897delinsAGGTTT
NCBI36
NG_021477.1:g.2447_2452delinsAGGTTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000454603.5:c.-64+714_-64+719delinsAGGTTT
ENSP00000402366.1:n.-64+714_-64+719delinsAGGTTT
XM_011510922.1:c.-64+714_-64+719delinsAGGTTT
XP_011509224.1:n.-64+714_-64+719delinsAGGTTT
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