Canonical Allele Identifier: CA531368334

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1262382350
• gnomAD v2: 2-25457256-GACGTCAGTAT-G
• gnomAD v4: 2-25234387-GACGTCAGTAT-G
• MyVariant Identifiers: chr2:g.25457257_25457266del (hg19) ; chr2:g.25234388_25234397del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234389_25234398del , CM000664.2:g.25234389_25234398del	GRCh38
NC_000002.11:g.25457258_25457267del , CM000664.1:g.25457258_25457267del	GRCh37
NC_000002.10:g.25310762_25310771del	NCBI36
NG_029465.2:g.113194_113203del , LRG_459:g.113194_113203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.870_879del
ENST00000683393.1:c.1767_1776del	ENSP00000508654.1:n.1767_1776del
ENST00000683760.1:c.1952_1961del	ENSP00000507765.1:p.Tyr651SerfsTer4
ENST00000321117.10:c.2621_2630del MANE Select	ENSP00000324375.5:p.Tyr874SerfsTer4
ENST00000264709.7:c.2621_2630del	ENSP00000264709.3:p.Tyr874SerfsTer4
ENST00000321117.9:c.2621_2630del	ENSP00000324375.5:p.Tyr874SerfsTer4
ENST00000380746.8:c.2054_2063del	ENSP00000370122.4:p.Tyr685SerfsTer4
ENST00000380756.7:c.*474_*483del	ENSP00000370132.3:n.*474_*483del
ENST00000402667.1:c.1952_1961del	ENSP00000384237.1:p.Tyr651SerfsTer4
NM_022552.4:c.2621_2630del , LRG_459t1:c.2621_2630del	NP_072046.2:p.Tyr874SerfsTer4
NM_153759.3:c.2054_2063del , LRG_459t2:c.2054_2063del	NP_715640.2:p.Tyr685SerfsTer4
NM_175629.2:c.2621_2630del , LRG_459t4:c.2621_2630del	NP_783328.1:p.Tyr874SerfsTer4
XM_005264175.3:c.2621_2630del	XP_005264232.1:p.Tyr874SerfsTer4
XM_005264177.3:c.1952_1961del	XP_005264234.1:p.Tyr651SerfsTer4
XM_006711958.2:c.2177_2186del	XP_006712021.1:p.Tyr726SerfsTer4
XM_011532662.1:c.2474_2483del	XP_011530964.1:p.Tyr825SerfsTer4
XM_011532663.1:c.2456_2465del	XP_011530965.1:p.Tyr819SerfsTer4
XM_011532665.1:c.2165_2174del	XP_011530967.1:p.Tyr722SerfsTer4
XM_011532666.1:c.2093_2102del	XP_011530968.1:p.Tyr698SerfsTer4
XM_011532667.1:c.1952_1961del	XP_011530969.1:p.Tyr651SerfsTer4
NM_001320893.1:c.2165_2174del	NP_001307822.1:p.Tyr722SerfsTer4
NR_135490.1:n.3158_3167del
XM_005264175.5:c.2621_2630del	XP_005264232.1:p.Tyr874SerfsTer4
XM_005264177.4:c.1952_1961del	XP_005264234.1:p.Tyr651SerfsTer4
XM_011532662.2:c.2474_2483del	XP_011530964.1:p.Tyr825SerfsTer4
XM_011532663.2:c.2456_2465del	XP_011530965.1:p.Tyr819SerfsTer4
XM_011532666.2:c.2093_2102del	XP_011530968.1:p.Tyr698SerfsTer4
XM_011532667.3:c.1952_1961del	XP_011530969.1:p.Tyr651SerfsTer4
XM_017003526.1:c.2621_2630del	XP_016859015.1:p.Tyr874SerfsTer4
XM_017003527.1:c.1952_1961del	XP_016859016.1:p.Tyr651SerfsTer4
XR_001738657.1:n.2828_2837del
NM_001375819.1:c.1952_1961del	NP_001362748.1:p.Tyr651SerfsTer4
NR_135490.2:n.3051_3060del
NM_022552.5:c.2621_2630del MANE Select	NP_072046.2:p.Tyr874SerfsTer4