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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:
CA691066133
Gene: HMGA2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1464342563
MyVariant Identifiers:
chr12:g.66358192del (hg19)
chr12:g.65964412del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.65964412del , CM000674.2:g.65964412del
GRCh38
NC_000012.11:g.66358192del , CM000674.1:g.66358192del
GRCh37
NC_000012.10:g.64644459del
NCBI36
NG_016296.1:g.144953del
Transcript Alleles
HGVS
Amino-acid change
ENST00000403681.7:c.*1120del
MANE Select
ENSP00000384026.2:n.*1120del
ENST00000403681.6:c.*1120del
ENSP00000384026.2:n.*1120del
NM_003483.4:c.*1120del
NP_003474.1:n.*1120del
NM_003483.6:c.*1120del
MANE Select
NP_003474.1:n.*1120del
Search 100 bp 5'
Search 100 bp 3'