Canonical Allele Identifier: CA2576693606

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 2853491
• ClinVar RCV Id: RCV003746055
• gnomAD v4: 2-25234408-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234411del , CM000664.2:g.25234411del	GRCh38
NC_000002.11:g.25457280del , CM000664.1:g.25457280del	GRCh37
NC_000002.10:g.25310784del	NCBI36
NG_029465.2:g.113182del , LRG_459:g.113182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.858del
ENST00000683393.1:c.1755del	ENSP00000508654.1:n.1755del
ENST00000683760.1:c.1940del	ENSP00000507765.1:p.Phe647SerfsTer11
ENST00000321117.10:c.2609del MANE Select	ENSP00000324375.5:p.Phe870SerfsTer11
ENST00000264709.7:c.2609del	ENSP00000264709.3:p.Phe870SerfsTer11
ENST00000321117.9:c.2609del	ENSP00000324375.5:p.Phe870SerfsTer11
ENST00000380746.8:c.2042del	ENSP00000370122.4:p.Phe681SerfsTer11
ENST00000380756.7:c.*462del	ENSP00000370132.3:n.*462del
ENST00000402667.1:c.1940del	ENSP00000384237.1:p.Phe647SerfsTer11
NM_022552.4:c.2609del , LRG_459t1:c.2609del	NP_072046.2:p.Phe870SerfsTer11
NM_153759.3:c.2042del , LRG_459t2:c.2042del	NP_715640.2:p.Phe681SerfsTer11
NM_175629.2:c.2609del , LRG_459t4:c.2609del	NP_783328.1:p.Phe870SerfsTer11
XM_005264175.3:c.2609del	XP_005264232.1:p.Phe870SerfsTer11
XM_005264177.3:c.1940del	XP_005264234.1:p.Phe647SerfsTer11
XM_006711958.2:c.2165del	XP_006712021.1:p.Phe722SerfsTer11
XM_011532662.1:c.2462del	XP_011530964.1:p.Phe821SerfsTer11
XM_011532663.1:c.2444del	XP_011530965.1:p.Phe815SerfsTer11
XM_011532665.1:c.2153del	XP_011530967.1:p.Phe718SerfsTer11
XM_011532666.1:c.2081del	XP_011530968.1:p.Phe694SerfsTer11
XM_011532667.1:c.1940del	XP_011530969.1:p.Phe647SerfsTer11
NM_001320893.1:c.2153del	NP_001307822.1:p.Phe718SerfsTer11
NR_135490.1:n.3146del
XM_005264175.5:c.2609del	XP_005264232.1:p.Phe870SerfsTer11
XM_005264177.4:c.1940del	XP_005264234.1:p.Phe647SerfsTer11
XM_011532662.2:c.2462del	XP_011530964.1:p.Phe821SerfsTer11
XM_011532663.2:c.2444del	XP_011530965.1:p.Phe815SerfsTer11
XM_011532666.2:c.2081del	XP_011530968.1:p.Phe694SerfsTer11
XM_011532667.3:c.1940del	XP_011530969.1:p.Phe647SerfsTer11
XM_017003526.1:c.2609del	XP_016859015.1:p.Phe870SerfsTer11
XM_017003527.1:c.1940del	XP_016859016.1:p.Phe647SerfsTer11
XR_001738657.1:n.2816del
NM_001375819.1:c.1940del	NP_001362748.1:p.Phe647SerfsTer11
NR_135490.2:n.3039del
NM_022552.5:c.2609del MANE Select	NP_072046.2:p.Phe870SerfsTer11