Canonical Allele Identifier: CA1555498

Gene: DNMT3A

Linked Data

• dbSNP Id: rs767943246
• ExAC: 2:25457277 G / GAAACCAA
• gnomAD v2: 2-25457277-G-GAAACCAA
• MyVariant Identifiers: chr2:g.25457277_25457278insAAACCAA (hg19) ; chr2:g.25234408_25234409insAAACCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234410_25234416dup , CM000664.2:g.25234410_25234416dup	GRCh38
NC_000002.11:g.25457279_25457285dup , CM000664.1:g.25457279_25457285dup	GRCh37
NC_000002.10:g.25310783_25310789dup	NCBI36
NG_029465.2:g.113176_113182dup , LRG_459:g.113176_113182dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.852_858dup
ENST00000683393.1:c.1749_1755dup	ENSP00000508654.1:n.1749_1755dup
ENST00000683760.1:c.1934_1940dup	ENSP00000507765.1:p.Pro648TrpfsTer8
ENST00000321117.10:c.2603_2609dup MANE Select	ENSP00000324375.5:p.Pro871TrpfsTer8
ENST00000264709.7:c.2603_2609dup	ENSP00000264709.3:p.Pro871TrpfsTer8
ENST00000321117.9:c.2603_2609dup	ENSP00000324375.5:p.Pro871TrpfsTer8
ENST00000380746.8:c.2036_2042dup	ENSP00000370122.4:p.Pro682TrpfsTer8
ENST00000380756.7:c.*456_*462dup	ENSP00000370132.3:n.*456_*462dup
ENST00000402667.1:c.1934_1940dup	ENSP00000384237.1:p.Pro648TrpfsTer8
NM_022552.4:c.2603_2609dup , LRG_459t1:c.2603_2609dup	NP_072046.2:p.Pro871TrpfsTer8
NM_153759.3:c.2036_2042dup , LRG_459t2:c.2036_2042dup	NP_715640.2:p.Pro682TrpfsTer8
NM_175629.2:c.2603_2609dup , LRG_459t4:c.2603_2609dup	NP_783328.1:p.Pro871TrpfsTer8
XM_005264175.3:c.2603_2609dup	XP_005264232.1:p.Pro871TrpfsTer8
XM_005264177.3:c.1934_1940dup	XP_005264234.1:p.Pro648TrpfsTer8
XM_006711958.2:c.2159_2165dup	XP_006712021.1:p.Pro723TrpfsTer8
XM_011532662.1:c.2456_2462dup	XP_011530964.1:p.Pro822TrpfsTer8
XM_011532663.1:c.2438_2444dup	XP_011530965.1:p.Pro816TrpfsTer8
XM_011532665.1:c.2147_2153dup	XP_011530967.1:p.Pro719TrpfsTer8
XM_011532666.1:c.2075_2081dup	XP_011530968.1:p.Pro695TrpfsTer8
XM_011532667.1:c.1934_1940dup	XP_011530969.1:p.Pro648TrpfsTer8
NM_001320893.1:c.2147_2153dup	NP_001307822.1:p.Pro719TrpfsTer8
NR_135490.1:n.3140_3146dup
XM_005264175.5:c.2603_2609dup	XP_005264232.1:p.Pro871TrpfsTer8
XM_005264177.4:c.1934_1940dup	XP_005264234.1:p.Pro648TrpfsTer8
XM_011532662.2:c.2456_2462dup	XP_011530964.1:p.Pro822TrpfsTer8
XM_011532663.2:c.2438_2444dup	XP_011530965.1:p.Pro816TrpfsTer8
XM_011532666.2:c.2075_2081dup	XP_011530968.1:p.Pro695TrpfsTer8
XM_011532667.3:c.1934_1940dup	XP_011530969.1:p.Pro648TrpfsTer8
XM_017003526.1:c.2603_2609dup	XP_016859015.1:p.Pro871TrpfsTer8
XM_017003527.1:c.1934_1940dup	XP_016859016.1:p.Pro648TrpfsTer8
XR_001738657.1:n.2810_2816dup
NM_001375819.1:c.1934_1940dup	NP_001362748.1:p.Pro648TrpfsTer8
NR_135490.2:n.3033_3039dup
NM_022552.5:c.2603_2609dup MANE Select	NP_072046.2:p.Pro871TrpfsTer8