Canonical Allele Identifier: CA2658172268

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240394-T-TGGGCCGCGCATCATGCAGGAGGCGGTAGAACTCAAAGAAGAGCCGGCCAGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240395_25240447dup , CM000664.2:g.25240395_25240447dup	GRCh38
NC_000002.11:g.25463264_25463316dup , CM000664.1:g.25463264_25463316dup	GRCh37
NC_000002.10:g.25316768_25316820dup	NCBI36
NG_029465.2:g.107144_107196dup , LRG_459:g.107144_107196dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.496_548dup
ENST00000683393.1:c.1323_1375dup	ENSP00000508654.1:n.1323_1375dup
ENST00000683760.1:c.1508_1560dup	ENSP00000507765.1:p.Lys521AlafsTer?
ENST00000321117.10:c.2177_2229dup MANE Select	ENSP00000324375.5:p.Lys744AlafsTer?
ENST00000264709.7:c.2177_2229dup	ENSP00000264709.3:p.Lys744AlafsTer?
ENST00000321117.9:c.2177_2229dup	ENSP00000324375.5:p.Lys744AlafsTer?
ENST00000380746.8:c.1610_1662dup	ENSP00000370122.4:p.Lys555AlafsTer?
ENST00000380756.7:c.2177_2229dup	ENSP00000370132.3:p.Lys744AlafsTer?
ENST00000402667.1:c.1508_1560dup	ENSP00000384237.1:p.Lys521AlafsTer?
ENST00000461228.1:n.396_448dup
ENST00000466601.5:n.549_601dup
ENST00000474887.5:n.496_548dup
ENST00000482935.5:n.177_229dup
ENST00000491288.5:n.310+193_310+245dup
NM_022552.4:c.2177_2229dup , LRG_459t1:c.2177_2229dup	NP_072046.2:p.Lys744AlafsTer?
NM_153759.3:c.1610_1662dup , LRG_459t2:c.1610_1662dup	NP_715640.2:p.Lys555AlafsTer?
NM_175629.2:c.2177_2229dup , LRG_459t4:c.2177_2229dup	NP_783328.1:p.Lys744AlafsTer?
XM_005264175.3:c.2177_2229dup	XP_005264232.1:p.Lys744AlafsTer?
XM_005264177.3:c.1508_1560dup	XP_005264234.1:p.Lys521AlafsTer?
XM_006711957.2:c.2177_2229dup	XP_006712020.1:p.Lys744AlafsTer?
XM_006711958.2:c.1733_1785dup	XP_006712021.1:p.Lys596AlafsTer?
XM_011532662.1:c.2030_2082dup	XP_011530964.1:p.Lys695AlafsTer?
XM_011532663.1:c.2012_2064dup	XP_011530965.1:p.Lys689AlafsTer?
XM_011532664.1:c.2177_2229dup	XP_011530966.1:p.Lys744AlafsTer?
XM_011532665.1:c.1721_1773dup	XP_011530967.1:p.Lys592AlafsTer?
XM_011532666.1:c.1649_1701dup	XP_011530968.1:p.Lys568AlafsTer?
XM_011532667.1:c.1508_1560dup	XP_011530969.1:p.Lys521AlafsTer?
XM_011532668.1:c.2177_2229dup	XP_011530970.1:p.Lys744AlafsTer?
NM_001320893.1:c.1721_1773dup	NP_001307822.1:p.Lys592AlafsTer?
NR_135490.1:n.2515_2567dup
XM_005264175.5:c.2177_2229dup	XP_005264232.1:p.Lys744AlafsTer?
XM_005264177.4:c.1508_1560dup	XP_005264234.1:p.Lys521AlafsTer?
XM_011532662.2:c.2030_2082dup	XP_011530964.1:p.Lys695AlafsTer?
XM_011532663.2:c.2012_2064dup	XP_011530965.1:p.Lys689AlafsTer?
XM_011532664.2:c.2177_2229dup	XP_011530966.1:p.Lys744AlafsTer?
XM_011532666.2:c.1649_1701dup	XP_011530968.1:p.Lys568AlafsTer?
XM_011532667.3:c.1508_1560dup	XP_011530969.1:p.Lys521AlafsTer?
XM_017003526.1:c.2177_2229dup	XP_016859015.1:p.Lys744AlafsTer?
XM_017003527.1:c.1508_1560dup	XP_016859016.1:p.Lys521AlafsTer?
XR_001738657.1:n.2454_2506dup
NM_001375819.1:c.1508_1560dup	NP_001362748.1:p.Lys521AlafsTer?
NR_135490.2:n.2408_2460dup
NM_022552.5:c.2177_2229dup MANE Select	NP_072046.2:p.Lys744AlafsTer?