Canonical Allele Identifier: CA2658167866

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234290-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234294dup , CM000664.2:g.25234294dup	GRCh38
NC_000002.11:g.25457163dup , CM000664.1:g.25457163dup	GRCh37
NC_000002.10:g.25310667dup	NCBI36
NG_029465.2:g.113300dup , LRG_459:g.113300dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.976dup
ENST00000683393.1:c.1873dup	ENSP00000508654.1:n.1873dup
ENST00000683760.1:c.2058dup	ENSP00000507765.1:p.Ala687CysfsTer11
ENST00000321117.10:c.2727dup MANE Select	ENSP00000324375.5:p.Ala910CysfsTer11
ENST00000264709.7:c.2727dup	ENSP00000264709.3:p.Ala910CysfsTer11
ENST00000321117.9:c.2727dup	ENSP00000324375.5:p.Ala910CysfsTer11
ENST00000380746.8:c.2160dup	ENSP00000370122.4:p.Ala721CysfsTer11
ENST00000380756.7:c.*580dup	ENSP00000370132.3:n.*580dup
ENST00000402667.1:c.2058dup	ENSP00000384237.1:p.Ala687CysfsTer11
NM_022552.4:c.2727dup , LRG_459t1:c.2727dup	NP_072046.2:p.Ala910CysfsTer11
NM_153759.3:c.2160dup , LRG_459t2:c.2160dup	NP_715640.2:p.Ala721CysfsTer11
NM_175629.2:c.2727dup , LRG_459t4:c.2727dup	NP_783328.1:p.Ala910CysfsTer11
XM_005264175.3:c.2727dup	XP_005264232.1:p.Ala910CysfsTer11
XM_005264177.3:c.2058dup	XP_005264234.1:p.Ala687CysfsTer11
XM_006711958.2:c.2283dup	XP_006712021.1:p.Ala762CysfsTer11
XM_011532662.1:c.2580dup	XP_011530964.1:p.Ala861CysfsTer11
XM_011532663.1:c.2562dup	XP_011530965.1:p.Ala855CysfsTer11
XM_011532665.1:c.2271dup	XP_011530967.1:p.Ala758CysfsTer11
XM_011532666.1:c.2199dup	XP_011530968.1:p.Ala734CysfsTer11
XM_011532667.1:c.2058dup	XP_011530969.1:p.Ala687CysfsTer11
NM_001320893.1:c.2271dup	NP_001307822.1:p.Ala758CysfsTer11
NR_135490.1:n.3264dup
XM_005264175.5:c.2727dup	XP_005264232.1:p.Ala910CysfsTer11
XM_005264177.4:c.2058dup	XP_005264234.1:p.Ala687CysfsTer11
XM_011532662.2:c.2580dup	XP_011530964.1:p.Ala861CysfsTer11
XM_011532663.2:c.2562dup	XP_011530965.1:p.Ala855CysfsTer11
XM_011532666.2:c.2199dup	XP_011530968.1:p.Ala734CysfsTer11
XM_011532667.3:c.2058dup	XP_011530969.1:p.Ala687CysfsTer11
XM_017003526.1:c.2727dup	XP_016859015.1:p.Ala910CysfsTer11
XM_017003527.1:c.2058dup	XP_016859016.1:p.Ala687CysfsTer11
XR_001738657.1:n.2934dup
NM_001375819.1:c.2058dup	NP_001362748.1:p.Ala687CysfsTer11
NR_135490.2:n.3157dup
NM_022552.5:c.2727dup MANE Select	NP_072046.2:p.Ala910CysfsTer11