Canonical Allele Identifier: CA2594345645

Gene: DNMT3A

Linked Data

• gnomAD v3: 2-25246634-AGGCCCTT-A
• gnomAD v4: 2-25246634-AGGCCCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25246635_25246641del , CM000664.2:g.25246635_25246641del	GRCh38
NC_000002.11:g.25469504_25469510del , CM000664.1:g.25469504_25469510del	GRCh37
NC_000002.10:g.25323008_25323014del	NCBI36
NG_029465.2:g.100950_100956del , LRG_459:g.100950_100956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683393.1:c.404_410del	ENSP00000508654.1:n.404_410del
ENST00000683760.1:c.589_595del	ENSP00000507765.1:p.Lys197TrpfsTer?
ENST00000321117.10:c.1258_1264del MANE Select	ENSP00000324375.5:p.Lys420TrpfsTer?
ENST00000264709.7:c.1258_1264del	ENSP00000264709.3:p.Lys420TrpfsTer?
ENST00000321117.9:c.1258_1264del	ENSP00000324375.5:p.Lys420TrpfsTer?
ENST00000380746.8:c.691_697del	ENSP00000370122.4:p.Lys231TrpfsTer?
ENST00000380756.7:c.1258_1264del	ENSP00000370132.3:p.Lys420TrpfsTer?
ENST00000402667.1:c.589_595del	ENSP00000384237.1:p.Lys197TrpfsTer?
ENST00000474807.5:n.553_559del
NM_022552.4:c.1258_1264del , LRG_459t1:c.1258_1264del	NP_072046.2:p.Lys420TrpfsTer?
NM_153759.3:c.691_697del , LRG_459t2:c.691_697del	NP_715640.2:p.Lys231TrpfsTer?
NM_175629.2:c.1258_1264del , LRG_459t4:c.1258_1264del	NP_783328.1:p.Lys420TrpfsTer?
XM_005264175.3:c.1258_1264del	XP_005264232.1:p.Lys420TrpfsTer?
XM_005264177.3:c.589_595del	XP_005264234.1:p.Lys197TrpfsTer?
XM_006711957.2:c.1258_1264del	XP_006712020.1:p.Lys420TrpfsTer?
XM_006711958.2:c.814_820del	XP_006712021.1:p.Lys272TrpfsTer?
XM_011532662.1:c.1111_1117del	XP_011530964.1:p.Lys371TrpfsTer?
XM_011532663.1:c.1093_1099del	XP_011530965.1:p.Lys365TrpfsTer?
XM_011532664.1:c.1258_1264del	XP_011530966.1:p.Lys420TrpfsTer?
XM_011532665.1:c.802_808del	XP_011530967.1:p.Lys268TrpfsTer?
XM_011532666.1:c.730_736del	XP_011530968.1:p.Lys244TrpfsTer?
XM_011532667.1:c.589_595del	XP_011530969.1:p.Lys197TrpfsTer?
XM_011532668.1:c.1258_1264del	XP_011530970.1:p.Lys420TrpfsTer?
NM_001320893.1:c.802_808del	NP_001307822.1:p.Lys268TrpfsTer?
NR_135490.1:n.1596_1602del
XM_005264175.5:c.1258_1264del	XP_005264232.1:p.Lys420TrpfsTer?
XM_005264177.4:c.589_595del	XP_005264234.1:p.Lys197TrpfsTer?
XM_011532662.2:c.1111_1117del	XP_011530964.1:p.Lys371TrpfsTer?
XM_011532663.2:c.1093_1099del	XP_011530965.1:p.Lys365TrpfsTer?
XM_011532664.2:c.1258_1264del	XP_011530966.1:p.Lys420TrpfsTer?
XM_011532666.2:c.730_736del	XP_011530968.1:p.Lys244TrpfsTer?
XM_011532667.3:c.589_595del	XP_011530969.1:p.Lys197TrpfsTer?
XM_017003526.1:c.1258_1264del	XP_016859015.1:p.Lys420TrpfsTer?
XM_017003527.1:c.589_595del	XP_016859016.1:p.Lys197TrpfsTer?
XR_001738657.1:n.1535_1541del
NM_001375819.1:c.589_595del	NP_001362748.1:p.Lys197TrpfsTer?
NR_135490.2:n.1489_1495del
NM_022552.5:c.1258_1264del MANE Select	NP_072046.2:p.Lys420TrpfsTer?