Canonical Allele Identifier: CA531367727
Gene: DNMT3A HGNC NCBI

Linked Data

dbSNP Id: rs1289544480
gnomAD v2: 2-25452222-CCA-C
gnomAD v3: 2-25229353-CCA-C
gnomAD v4: 2-25229353-CCA-C
MyVariant Identifiers: chr2:g.25452223_25452224del (hg19) chr2:g.25229354_25229355del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25229354_25229355del , CM000664.2:g.25229354_25229355del GRCh38
NC_000002.11:g.25452223_25452224del , CM000664.1:g.25452223_25452224del GRCh37
NC_000002.10:g.25305727_25305728del NCBI36
NG_029465.2:g.118236_118237del , LRG_459:g.118236_118237del

Transcript Alleles

HGVS Amino-acid change
ENST00000321117.10:c.*4924_*4925del MANE Select ENSP00000324375.5:n.*4924_*4925del
ENST00000264709.7:c.*4924_*4925del ENSP00000264709.3:n.*4924_*4925del
NR_135490.2:n.8093_8094del
NM_022552.5:c.*4924_*4925del MANE Select NP_072046.2:n.*4924_*4925del
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