Canonical Allele Identifier: CA2658171825

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240317-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240318dup , CM000664.2:g.25240318dup	GRCh38
NC_000002.11:g.25463187dup , CM000664.1:g.25463187dup	GRCh37
NC_000002.10:g.25316691dup	NCBI36
NG_029465.2:g.107273dup , LRG_459:g.107273dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.625dup
ENST00000683393.1:c.1452dup	ENSP00000508654.1:n.1452dup
ENST00000683760.1:c.1637dup	ENSP00000507765.1:p.Ser547LeufsTer12
ENST00000321117.10:c.2306dup MANE Select	ENSP00000324375.5:p.Ser770LeufsTer12
ENST00000264709.7:c.2306dup	ENSP00000264709.3:p.Ser770LeufsTer12
ENST00000321117.9:c.2306dup	ENSP00000324375.5:p.Ser770LeufsTer12
ENST00000380746.8:c.1739dup	ENSP00000370122.4:p.Ser581LeufsTer12
ENST00000380756.7:c.2306dup	ENSP00000370132.3:p.Ser770LeufsTer9
ENST00000402667.1:c.1637dup	ENSP00000384237.1:p.Ser547LeufsTer12
ENST00000461228.1:n.525dup
ENST00000466601.5:n.678dup
ENST00000474887.5:n.625dup
ENST00000482935.5:n.306dup
ENST00000491288.5:n.310+322dup
NM_022552.4:c.2306dup , LRG_459t1:c.2306dup	NP_072046.2:p.Ser770LeufsTer12
NM_153759.3:c.1739dup , LRG_459t2:c.1739dup	NP_715640.2:p.Ser581LeufsTer12
NM_175629.2:c.2306dup , LRG_459t4:c.2306dup	NP_783328.1:p.Ser770LeufsTer12
XM_005264175.3:c.2306dup	XP_005264232.1:p.Ser770LeufsTer12
XM_005264177.3:c.1637dup	XP_005264234.1:p.Ser547LeufsTer12
XM_006711957.2:c.2306dup	XP_006712020.1:p.Ser770LeufsTer12
XM_006711958.2:c.1862dup	XP_006712021.1:p.Ser622LeufsTer12
XM_011532662.1:c.2159dup	XP_011530964.1:p.Ser721LeufsTer12
XM_011532663.1:c.2141dup	XP_011530965.1:p.Ser715LeufsTer12
XM_011532664.1:c.2306dup	XP_011530966.1:p.Ser770LeufsTer9
XM_011532665.1:c.1850dup	XP_011530967.1:p.Ser618LeufsTer12
XM_011532666.1:c.1778dup	XP_011530968.1:p.Ser594LeufsTer12
XM_011532667.1:c.1637dup	XP_011530969.1:p.Ser547LeufsTer12
XM_011532668.1:c.2306dup	XP_011530970.1:p.Ser770LeufsTer9
NM_001320893.1:c.1850dup	NP_001307822.1:p.Ser618LeufsTer12
NR_135490.1:n.2644dup
XM_005264175.5:c.2306dup	XP_005264232.1:p.Ser770LeufsTer12
XM_005264177.4:c.1637dup	XP_005264234.1:p.Ser547LeufsTer12
XM_011532662.2:c.2159dup	XP_011530964.1:p.Ser721LeufsTer12
XM_011532663.2:c.2141dup	XP_011530965.1:p.Ser715LeufsTer12
XM_011532664.2:c.2306dup	XP_011530966.1:p.Ser770LeufsTer9
XM_011532666.2:c.1778dup	XP_011530968.1:p.Ser594LeufsTer12
XM_011532667.3:c.1637dup	XP_011530969.1:p.Ser547LeufsTer12
XM_017003526.1:c.2306dup	XP_016859015.1:p.Ser770LeufsTer12
XM_017003527.1:c.1637dup	XP_016859016.1:p.Ser547LeufsTer12
XR_001738657.1:n.2583dup
NM_001375819.1:c.1637dup	NP_001362748.1:p.Ser547LeufsTer12
NR_135490.2:n.2537dup
NM_022552.5:c.2306dup MANE Select	NP_072046.2:p.Ser770LeufsTer12