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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:
CA2042816375
Gene: HMGA2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.65964411_65964412delinsAG , CM000674.2:g.65964411_65964412delinsAG
GRCh38
NC_000012.11:g.66358191_66358192delinsAG , CM000674.1:g.66358191_66358192delinsAG
GRCh37
NC_000012.10:g.64644458_64644459delinsAG
NCBI36
NG_016296.1:g.144952_144953delinsAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000403681.7:c.*1119_*1120delinsAG
MANE Select
ENSP00000384026.2:n.*1119_*1120delinsAG
ENST00000403681.6:c.*1119_*1120delinsAG
ENSP00000384026.2:n.*1119_*1120delinsAG
NM_003483.4:c.*1119_*1120delinsAG
NP_003474.1:n.*1119_*1120delinsAG
NM_003483.6:c.*1119_*1120delinsAG
MANE Select
NP_003474.1:n.*1119_*1120delinsAG
Search 100 bp 5'
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