Canonical Allele Identifier: CA1555501

Gene: DNMT3A

Linked Data

• dbSNP Id: rs761283545
• ExAC: 2:25457287 AC / A
• gnomAD v3: 2-25234418-AC-A
• gnomAD v4: 2-25234418-AC-A
• MyVariant Identifiers: chr2:g.25457288del (hg19) ; chr2:g.25234419del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234421del , CM000664.2:g.25234421del	GRCh38
NC_000002.11:g.25457290del , CM000664.1:g.25457290del	GRCh37
NC_000002.10:g.25310794del	NCBI36
NG_029465.2:g.113172del , LRG_459:g.113172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.848del
ENST00000683393.1:c.1745del
ENST00000683760.1:c.1930del
ENST00000321117.10:c.2599del
ENST00000264709.7:c.2599del
ENST00000321117.9:c.2599del
ENST00000380746.8:c.2032del
ENST00000380756.7:c.*452del
ENST00000402667.1:c.1930del
NM_022552.4:c.2599del , LRG_459t1:c.2599del
NM_153759.3:c.2032del , LRG_459t2:c.2032del
NM_175629.2:c.2599del , LRG_459t4:c.2599del
XM_005264175.3:c.2599del
XM_005264177.3:c.1930del
XM_006711958.2:c.2155del
XM_011532662.1:c.2452del
XM_011532663.1:c.2434del
XM_011532665.1:c.2143del
XM_011532666.1:c.2071del
XM_011532667.1:c.1930del
NM_001320893.1:c.2143del
NR_135490.1:n.3136del
XM_005264175.5:c.2599del
XM_005264177.4:c.1930del
XM_011532662.2:c.2452del
XM_011532663.2:c.2434del
XM_011532666.2:c.2071del
XM_011532667.3:c.1930del
XM_017003526.1:c.2599del
XM_017003527.1:c.1930del
XR_001738657.1:n.2806del
NM_001375819.1:c.1930del
NR_135490.2:n.3029del
NM_022552.5:c.2599del