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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
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Canonical Allele Identifier:
CA2042817502
Gene: HMGA2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.65965892_65965893delinsTA , CM000674.2:g.65965892_65965893delinsTA
GRCh38
NC_000012.11:g.66359672_66359673delinsTA , CM000674.1:g.66359672_66359673delinsTA
GRCh37
NC_000012.10:g.64645939_64645940delinsTA
NCBI36
NG_016296.1:g.146433_146434delinsTA
Transcript Alleles
HGVS
Amino-acid change
ENST00000403681.7:c.*2600_*2601delinsTA
MANE Select
ENSP00000384026.2:n.*2600_*2601delinsTA
ENST00000403681.6:c.*2600_*2601delinsTA
ENSP00000384026.2:n.*2600_*2601delinsTA
NM_003483.4:c.*2600_*2601delinsTA
NP_003474.1:n.*2600_*2601delinsTA
NM_003483.6:c.*2600_*2601delinsTA
MANE Select
NP_003474.1:n.*2600_*2601delinsTA
Search 100 bp 5'
Search 100 bp 3'