Canonical Allele Identifier: CA2658171698

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240307-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240309_25240310del , CM000664.2:g.25240309_25240310del	GRCh38
NC_000002.11:g.25463178_25463179del , CM000664.1:g.25463178_25463179del	GRCh37
NC_000002.10:g.25316682_25316683del	NCBI36
NG_029465.2:g.107282_107283del , LRG_459:g.107282_107283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.634_635del
ENST00000683393.1:c.1461_1462del	ENSP00000508654.1:n.1461_1462del
ENST00000683760.1:c.1646_1647del	ENSP00000507765.1:p.Phe549SerfsTer9
ENST00000321117.10:c.2315_2316del MANE Select	ENSP00000324375.5:p.Phe772SerfsTer9
ENST00000264709.7:c.2315_2316del	ENSP00000264709.3:p.Phe772SerfsTer9
ENST00000321117.9:c.2315_2316del	ENSP00000324375.5:p.Phe772SerfsTer9
ENST00000380746.8:c.1748_1749del	ENSP00000370122.4:p.Phe583SerfsTer9
ENST00000380756.7:c.2315_2316del	ENSP00000370132.3:p.Phe772SerfsTer6
ENST00000402667.1:c.1646_1647del	ENSP00000384237.1:p.Phe549SerfsTer9
ENST00000461228.1:n.534_535del
ENST00000466601.5:n.687_688del
ENST00000474887.5:n.634_635del
ENST00000482935.5:n.315_316del
ENST00000491288.5:n.310+331_310+332del
NM_022552.4:c.2315_2316del , LRG_459t1:c.2315_2316del	NP_072046.2:p.Phe772SerfsTer9
NM_153759.3:c.1748_1749del , LRG_459t2:c.1748_1749del	NP_715640.2:p.Phe583SerfsTer9
NM_175629.2:c.2315_2316del , LRG_459t4:c.2315_2316del	NP_783328.1:p.Phe772SerfsTer9
XM_005264175.3:c.2315_2316del	XP_005264232.1:p.Phe772SerfsTer9
XM_005264177.3:c.1646_1647del	XP_005264234.1:p.Phe549SerfsTer9
XM_006711957.2:c.2315_2316del	XP_006712020.1:p.Phe772SerfsTer9
XM_006711958.2:c.1871_1872del	XP_006712021.1:p.Phe624SerfsTer9
XM_011532662.1:c.2168_2169del	XP_011530964.1:p.Phe723SerfsTer9
XM_011532663.1:c.2150_2151del	XP_011530965.1:p.Phe717SerfsTer9
XM_011532664.1:c.2315_2316del	XP_011530966.1:p.Phe772SerfsTer6
XM_011532665.1:c.1859_1860del	XP_011530967.1:p.Phe620SerfsTer9
XM_011532666.1:c.1787_1788del	XP_011530968.1:p.Phe596SerfsTer9
XM_011532667.1:c.1646_1647del	XP_011530969.1:p.Phe549SerfsTer9
XM_011532668.1:c.2315_2316del	XP_011530970.1:p.Phe772SerfsTer6
NM_001320893.1:c.1859_1860del	NP_001307822.1:p.Phe620SerfsTer9
NR_135490.1:n.2653_2654del
XM_005264175.5:c.2315_2316del	XP_005264232.1:p.Phe772SerfsTer9
XM_005264177.4:c.1646_1647del	XP_005264234.1:p.Phe549SerfsTer9
XM_011532662.2:c.2168_2169del	XP_011530964.1:p.Phe723SerfsTer9
XM_011532663.2:c.2150_2151del	XP_011530965.1:p.Phe717SerfsTer9
XM_011532664.2:c.2315_2316del	XP_011530966.1:p.Phe772SerfsTer6
XM_011532666.2:c.1787_1788del	XP_011530968.1:p.Phe596SerfsTer9
XM_011532667.3:c.1646_1647del	XP_011530969.1:p.Phe549SerfsTer9
XM_017003526.1:c.2315_2316del	XP_016859015.1:p.Phe772SerfsTer9
XM_017003527.1:c.1646_1647del	XP_016859016.1:p.Phe549SerfsTer9
XR_001738657.1:n.2592_2593del
NM_001375819.1:c.1646_1647del	NP_001362748.1:p.Phe549SerfsTer9
NR_135490.2:n.2546_2547del
NM_022552.5:c.2315_2316del MANE Select	NP_072046.2:p.Phe772SerfsTer9