Canonical Allele Identifier: CA2658172112

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240365-CCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240366_25240368del , CM000664.2:g.25240366_25240368del	GRCh38
NC_000002.11:g.25463235_25463237del , CM000664.1:g.25463235_25463237del	GRCh37
NC_000002.10:g.25316739_25316741del	NCBI36
NG_029465.2:g.107223_107225del , LRG_459:g.107223_107225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.575_577del
ENST00000683393.1:c.1402_1404del	ENSP00000508654.1:n.1402_1404del
ENST00000683760.1:c.1587_1589del	ENSP00000507765.1:p.Phe529_Trp530delinsLeu
ENST00000321117.10:c.2256_2258del MANE Select	ENSP00000324375.5:p.Phe752_Trp753delinsLeu
ENST00000264709.7:c.2256_2258del	ENSP00000264709.3:p.Phe752_Trp753delinsLeu
ENST00000321117.9:c.2256_2258del	ENSP00000324375.5:p.Phe752_Trp753delinsLeu
ENST00000380746.8:c.1689_1691del	ENSP00000370122.4:p.Phe563_Trp564delinsLeu
ENST00000380756.7:c.2256_2258del	ENSP00000370132.3:p.Phe752_Trp753delinsLeu
ENST00000402667.1:c.1587_1589del	ENSP00000384237.1:p.Phe529_Trp530delinsLeu
ENST00000461228.1:n.475_477del
ENST00000466601.5:n.628_630del
ENST00000474887.5:n.575_577del
ENST00000482935.5:n.256_258del
ENST00000491288.5:n.310+272_310+274del
NM_022552.4:c.2256_2258del , LRG_459t1:c.2256_2258del	NP_072046.2:p.Phe752_Trp753delinsLeu
NM_153759.3:c.1689_1691del , LRG_459t2:c.1689_1691del	NP_715640.2:p.Phe563_Trp564delinsLeu
NM_175629.2:c.2256_2258del , LRG_459t4:c.2256_2258del	NP_783328.1:p.Phe752_Trp753delinsLeu
XM_005264175.3:c.2256_2258del	XP_005264232.1:p.Phe752_Trp753delinsLeu
XM_005264177.3:c.1587_1589del	XP_005264234.1:p.Phe529_Trp530delinsLeu
XM_006711957.2:c.2256_2258del	XP_006712020.1:p.Phe752_Trp753delinsLeu
XM_006711958.2:c.1812_1814del	XP_006712021.1:p.Phe604_Trp605delinsLeu
XM_011532662.1:c.2109_2111del	XP_011530964.1:p.Phe703_Trp704delinsLeu
XM_011532663.1:c.2091_2093del	XP_011530965.1:p.Phe697_Trp698delinsLeu
XM_011532664.1:c.2256_2258del	XP_011530966.1:p.Phe752_Trp753delinsLeu
XM_011532665.1:c.1800_1802del	XP_011530967.1:p.Phe600_Trp601delinsLeu
XM_011532666.1:c.1728_1730del	XP_011530968.1:p.Phe576_Trp577delinsLeu
XM_011532667.1:c.1587_1589del	XP_011530969.1:p.Phe529_Trp530delinsLeu
XM_011532668.1:c.2256_2258del	XP_011530970.1:p.Phe752_Trp753delinsLeu
NM_001320893.1:c.1800_1802del	NP_001307822.1:p.Phe600_Trp601delinsLeu
NR_135490.1:n.2594_2596del
XM_005264175.5:c.2256_2258del	XP_005264232.1:p.Phe752_Trp753delinsLeu
XM_005264177.4:c.1587_1589del	XP_005264234.1:p.Phe529_Trp530delinsLeu
XM_011532662.2:c.2109_2111del	XP_011530964.1:p.Phe703_Trp704delinsLeu
XM_011532663.2:c.2091_2093del	XP_011530965.1:p.Phe697_Trp698delinsLeu
XM_011532664.2:c.2256_2258del	XP_011530966.1:p.Phe752_Trp753delinsLeu
XM_011532666.2:c.1728_1730del	XP_011530968.1:p.Phe576_Trp577delinsLeu
XM_011532667.3:c.1587_1589del	XP_011530969.1:p.Phe529_Trp530delinsLeu
XM_017003526.1:c.2256_2258del	XP_016859015.1:p.Phe752_Trp753delinsLeu
XM_017003527.1:c.1587_1589del	XP_016859016.1:p.Phe529_Trp530delinsLeu
XR_001738657.1:n.2533_2535del
NM_001375819.1:c.1587_1589del	NP_001362748.1:p.Phe529_Trp530delinsLeu
NR_135490.2:n.2487_2489del
NM_022552.5:c.2256_2258del MANE Select	NP_072046.2:p.Phe752_Trp753delinsLeu