Canonical Allele Identifier: CA2658171890

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240327-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240329_25240330del , CM000664.2:g.25240329_25240330del	GRCh38
NC_000002.11:g.25463198_25463199del , CM000664.1:g.25463198_25463199del	GRCh37
NC_000002.10:g.25316702_25316703del	NCBI36
NG_029465.2:g.107262_107263del , LRG_459:g.107262_107263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.614_615del
ENST00000683393.1:c.1441_1442del	ENSP00000508654.1:n.1441_1442del
ENST00000683760.1:c.1626_1627del	ENSP00000507765.1:p.Asp542GlufsTer16
ENST00000321117.10:c.2295_2296del MANE Select	ENSP00000324375.5:p.Asp765GlufsTer16
ENST00000264709.7:c.2295_2296del	ENSP00000264709.3:p.Asp765GlufsTer16
ENST00000321117.9:c.2295_2296del	ENSP00000324375.5:p.Asp765GlufsTer16
ENST00000380746.8:c.1728_1729del	ENSP00000370122.4:p.Asp576GlufsTer16
ENST00000380756.7:c.2295_2296del	ENSP00000370132.3:p.Asp765GlufsTer13
ENST00000402667.1:c.1626_1627del	ENSP00000384237.1:p.Asp542GlufsTer16
ENST00000461228.1:n.514_515del
ENST00000466601.5:n.667_668del
ENST00000474887.5:n.614_615del
ENST00000482935.5:n.295_296del
ENST00000491288.5:n.310+311_310+312del
NM_022552.4:c.2295_2296del , LRG_459t1:c.2295_2296del	NP_072046.2:p.Asp765GlufsTer16
NM_153759.3:c.1728_1729del , LRG_459t2:c.1728_1729del	NP_715640.2:p.Asp576GlufsTer16
NM_175629.2:c.2295_2296del , LRG_459t4:c.2295_2296del	NP_783328.1:p.Asp765GlufsTer16
XM_005264175.3:c.2295_2296del	XP_005264232.1:p.Asp765GlufsTer16
XM_005264177.3:c.1626_1627del	XP_005264234.1:p.Asp542GlufsTer16
XM_006711957.2:c.2295_2296del	XP_006712020.1:p.Asp765GlufsTer16
XM_006711958.2:c.1851_1852del	XP_006712021.1:p.Asp617GlufsTer16
XM_011532662.1:c.2148_2149del	XP_011530964.1:p.Asp716GlufsTer16
XM_011532663.1:c.2130_2131del	XP_011530965.1:p.Asp710GlufsTer16
XM_011532664.1:c.2295_2296del	XP_011530966.1:p.Asp765GlufsTer13
XM_011532665.1:c.1839_1840del	XP_011530967.1:p.Asp613GlufsTer16
XM_011532666.1:c.1767_1768del	XP_011530968.1:p.Asp589GlufsTer16
XM_011532667.1:c.1626_1627del	XP_011530969.1:p.Asp542GlufsTer16
XM_011532668.1:c.2295_2296del	XP_011530970.1:p.Asp765GlufsTer13
NM_001320893.1:c.1839_1840del	NP_001307822.1:p.Asp613GlufsTer16
NR_135490.1:n.2633_2634del
XM_005264175.5:c.2295_2296del	XP_005264232.1:p.Asp765GlufsTer16
XM_005264177.4:c.1626_1627del	XP_005264234.1:p.Asp542GlufsTer16
XM_011532662.2:c.2148_2149del	XP_011530964.1:p.Asp716GlufsTer16
XM_011532663.2:c.2130_2131del	XP_011530965.1:p.Asp710GlufsTer16
XM_011532664.2:c.2295_2296del	XP_011530966.1:p.Asp765GlufsTer13
XM_011532666.2:c.1767_1768del	XP_011530968.1:p.Asp589GlufsTer16
XM_011532667.3:c.1626_1627del	XP_011530969.1:p.Asp542GlufsTer16
XM_017003526.1:c.2295_2296del	XP_016859015.1:p.Asp765GlufsTer16
XM_017003527.1:c.1626_1627del	XP_016859016.1:p.Asp542GlufsTer16
XR_001738657.1:n.2572_2573del
NM_001375819.1:c.1626_1627del	NP_001362748.1:p.Asp542GlufsTer16
NR_135490.2:n.2526_2527del
NM_022552.5:c.2295_2296del MANE Select	NP_072046.2:p.Asp765GlufsTer16