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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:
CA2619691030
Gene: HMGA2
HGNC
NCBI
Linked Data
gnomAD v4:
12-65965929-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.65965932del , CM000674.2:g.65965932del
GRCh38
NC_000012.11:g.66359712del , CM000674.1:g.66359712del
GRCh37
NC_000012.10:g.64645979del
NCBI36
NG_016296.1:g.146473del
Transcript Alleles
HGVS
Amino-acid change
ENST00000403681.7:c.*2640del
MANE Select
ENSP00000384026.2:n.*2640del
ENST00000403681.6:c.*2640del
ENSP00000384026.2:n.*2640del
NM_003483.4:c.*2640del
NP_003474.1:n.*2640del
NM_003483.6:c.*2640del
MANE Select
NP_003474.1:n.*2640del
Search 100 bp 5'
Search 100 bp 3'