Canonical Allele Identifier: CA2658172230

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240378-CGATCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240379_25240383del , CM000664.2:g.25240379_25240383del	GRCh38
NC_000002.11:g.25463248_25463252del , CM000664.1:g.25463248_25463252del	GRCh37
NC_000002.10:g.25316752_25316756del	NCBI36
NG_029465.2:g.107208_107212del , LRG_459:g.107208_107212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.560_564del
ENST00000683393.1:c.1387_1391del	ENSP00000508654.1:n.1387_1391del
ENST00000683760.1:c.1572_1576del	ENSP00000507765.1:p.Asp524GlufsTer8
ENST00000321117.10:c.2241_2245del MANE Select	ENSP00000324375.5:p.Asp747GlufsTer8
ENST00000264709.7:c.2241_2245del	ENSP00000264709.3:p.Asp747GlufsTer8
ENST00000321117.9:c.2241_2245del	ENSP00000324375.5:p.Asp747GlufsTer8
ENST00000380746.8:c.1674_1678del	ENSP00000370122.4:p.Asp558GlufsTer8
ENST00000380756.7:c.2241_2245del	ENSP00000370132.3:p.Asp747GlufsTer8
ENST00000402667.1:c.1572_1576del	ENSP00000384237.1:p.Asp524GlufsTer8
ENST00000461228.1:n.460_464del
ENST00000466601.5:n.613_617del
ENST00000474887.5:n.560_564del
ENST00000482935.5:n.241_245del
ENST00000491288.5:n.310+257_310+261del
NM_022552.4:c.2241_2245del , LRG_459t1:c.2241_2245del	NP_072046.2:p.Asp747GlufsTer8
NM_153759.3:c.1674_1678del , LRG_459t2:c.1674_1678del	NP_715640.2:p.Asp558GlufsTer8
NM_175629.2:c.2241_2245del , LRG_459t4:c.2241_2245del	NP_783328.1:p.Asp747GlufsTer8
XM_005264175.3:c.2241_2245del	XP_005264232.1:p.Asp747GlufsTer8
XM_005264177.3:c.1572_1576del	XP_005264234.1:p.Asp524GlufsTer8
XM_006711957.2:c.2241_2245del	XP_006712020.1:p.Asp747GlufsTer8
XM_006711958.2:c.1797_1801del	XP_006712021.1:p.Asp599GlufsTer8
XM_011532662.1:c.2094_2098del	XP_011530964.1:p.Asp698GlufsTer8
XM_011532663.1:c.2076_2080del	XP_011530965.1:p.Asp692GlufsTer8
XM_011532664.1:c.2241_2245del	XP_011530966.1:p.Asp747GlufsTer8
XM_011532665.1:c.1785_1789del	XP_011530967.1:p.Asp595GlufsTer8
XM_011532666.1:c.1713_1717del	XP_011530968.1:p.Asp571GlufsTer8
XM_011532667.1:c.1572_1576del	XP_011530969.1:p.Asp524GlufsTer8
XM_011532668.1:c.2241_2245del	XP_011530970.1:p.Asp747GlufsTer8
NM_001320893.1:c.1785_1789del	NP_001307822.1:p.Asp595GlufsTer8
NR_135490.1:n.2579_2583del
XM_005264175.5:c.2241_2245del	XP_005264232.1:p.Asp747GlufsTer8
XM_005264177.4:c.1572_1576del	XP_005264234.1:p.Asp524GlufsTer8
XM_011532662.2:c.2094_2098del	XP_011530964.1:p.Asp698GlufsTer8
XM_011532663.2:c.2076_2080del	XP_011530965.1:p.Asp692GlufsTer8
XM_011532664.2:c.2241_2245del	XP_011530966.1:p.Asp747GlufsTer8
XM_011532666.2:c.1713_1717del	XP_011530968.1:p.Asp571GlufsTer8
XM_011532667.3:c.1572_1576del	XP_011530969.1:p.Asp524GlufsTer8
XM_017003526.1:c.2241_2245del	XP_016859015.1:p.Asp747GlufsTer8
XM_017003527.1:c.1572_1576del	XP_016859016.1:p.Asp524GlufsTer8
XR_001738657.1:n.2518_2522del
NM_001375819.1:c.1572_1576del	NP_001362748.1:p.Asp524GlufsTer8
NR_135490.2:n.2472_2476del
NM_022552.5:c.2241_2245del MANE Select	NP_072046.2:p.Asp747GlufsTer8