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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:
CA531367737
Gene: DNMT3A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1411624671
gnomAD v2:
2-25452339-TCTCCAGCACTGAGAGCAGG-T
gnomAD v3:
2-25229470-TCTCCAGCACTGAGAGCAGG-T
gnomAD v4:
2-25229470-TCTCCAGCACTGAGAGCAGG-T
MyVariant Identifiers:
chr2:g.25452340_25452358del (hg19)
chr2:g.25229471_25229489del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.25229472_25229490del , CM000664.2:g.25229472_25229490del
GRCh38
NC_000002.11:g.25452341_25452359del , CM000664.1:g.25452341_25452359del
GRCh37
NC_000002.10:g.25305845_25305863del
NCBI36
NG_029465.2:g.118102_118120del , LRG_459:g.118102_118120del
Transcript Alleles
HGVS
Amino-acid change
ENST00000321117.10:c.*4790_*4808del
MANE Select
ENSP00000324375.5:n.*4790_*4808del
ENST00000264709.7:c.*4790_*4808del
ENSP00000264709.3:n.*4790_*4808del
NR_135490.2:n.7959_7977del
NM_022552.5:c.*4790_*4808del
MANE Select
NP_072046.2:n.*4790_*4808del
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