Canonical Allele Identifier: CA2658168031

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234313-A-AAGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234314_25234318dup , CM000664.2:g.25234314_25234318dup	GRCh38
NC_000002.11:g.25457183_25457187dup , CM000664.1:g.25457183_25457187dup	GRCh37
NC_000002.10:g.25310687_25310691dup	NCBI36
NG_029465.2:g.113273_113277dup , LRG_459:g.113273_113277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.949_953dup
ENST00000683393.1:c.1846_1850dup	ENSP00000508654.1:n.1846_1850dup
ENST00000683760.1:c.2031_2035dup	ENSP00000507765.1:p.Phe679SerfsTer6
ENST00000321117.10:c.2700_2704dup MANE Select	ENSP00000324375.5:p.Phe902SerfsTer6
ENST00000264709.7:c.2700_2704dup	ENSP00000264709.3:p.Phe902SerfsTer6
ENST00000321117.9:c.2700_2704dup	ENSP00000324375.5:p.Phe902SerfsTer6
ENST00000380746.8:c.2133_2137dup	ENSP00000370122.4:p.Phe713SerfsTer6
ENST00000380756.7:c.*553_*557dup	ENSP00000370132.3:n.*553_*557dup
ENST00000402667.1:c.2031_2035dup	ENSP00000384237.1:p.Phe679SerfsTer6
NM_022552.4:c.2700_2704dup , LRG_459t1:c.2700_2704dup	NP_072046.2:p.Phe902SerfsTer6
NM_153759.3:c.2133_2137dup , LRG_459t2:c.2133_2137dup	NP_715640.2:p.Phe713SerfsTer6
NM_175629.2:c.2700_2704dup , LRG_459t4:c.2700_2704dup	NP_783328.1:p.Phe902SerfsTer6
XM_005264175.3:c.2700_2704dup	XP_005264232.1:p.Phe902SerfsTer6
XM_005264177.3:c.2031_2035dup	XP_005264234.1:p.Phe679SerfsTer6
XM_006711958.2:c.2256_2260dup	XP_006712021.1:p.Phe754SerfsTer6
XM_011532662.1:c.2553_2557dup	XP_011530964.1:p.Phe853SerfsTer6
XM_011532663.1:c.2535_2539dup	XP_011530965.1:p.Phe847SerfsTer6
XM_011532665.1:c.2244_2248dup	XP_011530967.1:p.Phe750SerfsTer6
XM_011532666.1:c.2172_2176dup	XP_011530968.1:p.Phe726SerfsTer6
XM_011532667.1:c.2031_2035dup	XP_011530969.1:p.Phe679SerfsTer6
NM_001320893.1:c.2244_2248dup	NP_001307822.1:p.Phe750SerfsTer6
NR_135490.1:n.3237_3241dup
XM_005264175.5:c.2700_2704dup	XP_005264232.1:p.Phe902SerfsTer6
XM_005264177.4:c.2031_2035dup	XP_005264234.1:p.Phe679SerfsTer6
XM_011532662.2:c.2553_2557dup	XP_011530964.1:p.Phe853SerfsTer6
XM_011532663.2:c.2535_2539dup	XP_011530965.1:p.Phe847SerfsTer6
XM_011532666.2:c.2172_2176dup	XP_011530968.1:p.Phe726SerfsTer6
XM_011532667.3:c.2031_2035dup	XP_011530969.1:p.Phe679SerfsTer6
XM_017003526.1:c.2700_2704dup	XP_016859015.1:p.Phe902SerfsTer6
XM_017003527.1:c.2031_2035dup	XP_016859016.1:p.Phe679SerfsTer6
XR_001738657.1:n.2907_2911dup
NM_001375819.1:c.2031_2035dup	NP_001362748.1:p.Phe679SerfsTer6
NR_135490.2:n.3130_3134dup
NM_022552.5:c.2700_2704dup MANE Select	NP_072046.2:p.Phe902SerfsTer6