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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:
CA2042816487
Gene: HMGA2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1876852875
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.65964545_65964546insAAG , CM000674.2:g.65964545_65964546insAAG
GRCh38
NC_000012.11:g.66358325_66358326insAAG , CM000674.1:g.66358325_66358326insAAG
GRCh37
NC_000012.10:g.64644592_64644593insAAG
NCBI36
NG_016296.1:g.145086_145087insAAG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403681.7:c.*1253_*1254insAAG
MANE Select
ENSP00000384026.2:n.*1253_*1254insAAG
ENST00000403681.6:c.*1253_*1254insAAG
ENSP00000384026.2:n.*1253_*1254insAAG
NM_003483.4:c.*1253_*1254insAAG
NP_003474.1:n.*1253_*1254insAAG
NM_003483.6:c.*1253_*1254insAAG
MANE Select
NP_003474.1:n.*1253_*1254insAAG
Search 100 bp 5'
Search 100 bp 3'