Canonical Allele Identifier: CA531368315

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1323968409
• gnomAD v2: 2-25457179-GC-G
• gnomAD v4: 2-25234310-GC-G
• MyVariant Identifiers: chr2:g.25457180del (hg19) ; chr2:g.25234311del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234311del , CM000664.2:g.25234311del	GRCh38
NC_000002.11:g.25457180del , CM000664.1:g.25457180del	GRCh37
NC_000002.10:g.25310684del	NCBI36
NG_029465.2:g.113280del , LRG_459:g.113280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.956del
ENST00000683393.1:c.1853del	ENSP00000508654.1:n.1853del
ENST00000683760.1:c.2038del	ENSP00000507765.1:p.Ala680LeufsTer3
ENST00000321117.10:c.2707del MANE Select	ENSP00000324375.5:p.Ala903LeufsTer3
ENST00000264709.7:c.2707del	ENSP00000264709.3:p.Ala903LeufsTer3
ENST00000321117.9:c.2707del	ENSP00000324375.5:p.Ala903LeufsTer3
ENST00000380746.8:c.2140del	ENSP00000370122.4:p.Ala714LeufsTer3
ENST00000380756.7:c.*560del	ENSP00000370132.3:n.*560del
ENST00000402667.1:c.2038del	ENSP00000384237.1:p.Ala680LeufsTer3
NM_022552.4:c.2707del , LRG_459t1:c.2707del	NP_072046.2:p.Ala903LeufsTer3
NM_153759.3:c.2140del , LRG_459t2:c.2140del	NP_715640.2:p.Ala714LeufsTer3
NM_175629.2:c.2707del , LRG_459t4:c.2707del	NP_783328.1:p.Ala903LeufsTer3
XM_005264175.3:c.2707del	XP_005264232.1:p.Ala903LeufsTer3
XM_005264177.3:c.2038del	XP_005264234.1:p.Ala680LeufsTer3
XM_006711958.2:c.2263del	XP_006712021.1:p.Ala755LeufsTer3
XM_011532662.1:c.2560del	XP_011530964.1:p.Ala854LeufsTer3
XM_011532663.1:c.2542del	XP_011530965.1:p.Ala848LeufsTer3
XM_011532665.1:c.2251del	XP_011530967.1:p.Ala751LeufsTer3
XM_011532666.1:c.2179del	XP_011530968.1:p.Ala727LeufsTer3
XM_011532667.1:c.2038del	XP_011530969.1:p.Ala680LeufsTer3
NM_001320893.1:c.2251del	NP_001307822.1:p.Ala751LeufsTer3
NR_135490.1:n.3244del
XM_005264175.5:c.2707del	XP_005264232.1:p.Ala903LeufsTer3
XM_005264177.4:c.2038del	XP_005264234.1:p.Ala680LeufsTer3
XM_011532662.2:c.2560del	XP_011530964.1:p.Ala854LeufsTer3
XM_011532663.2:c.2542del	XP_011530965.1:p.Ala848LeufsTer3
XM_011532666.2:c.2179del	XP_011530968.1:p.Ala727LeufsTer3
XM_011532667.3:c.2038del	XP_011530969.1:p.Ala680LeufsTer3
XM_017003526.1:c.2707del	XP_016859015.1:p.Ala903LeufsTer3
XM_017003527.1:c.2038del	XP_016859016.1:p.Ala680LeufsTer3
XR_001738657.1:n.2914del
NM_001375819.1:c.2038del	NP_001362748.1:p.Ala680LeufsTer3
NR_135490.2:n.3137del
NM_022552.5:c.2707del MANE Select	NP_072046.2:p.Ala903LeufsTer3