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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:
CA2619691023
Gene: HMGA2
HGNC
NCBI
Linked Data
gnomAD v4:
12-65965881-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.65965883del , CM000674.2:g.65965883del
GRCh38
NC_000012.11:g.66359663del , CM000674.1:g.66359663del
GRCh37
NC_000012.10:g.64645930del
NCBI36
NG_016296.1:g.146424del
Transcript Alleles
HGVS
Amino-acid change
ENST00000403681.7:c.*2591del
MANE Select
ENSP00000384026.2:n.*2591del
ENST00000403681.6:c.*2591del
ENSP00000384026.2:n.*2591del
NM_003483.4:c.*2591del
NP_003474.1:n.*2591del
NM_003483.6:c.*2591del
MANE Select
NP_003474.1:n.*2591del
Search 100 bp 5'
Search 100 bp 3'