Canonical Allele Identifier: CA531368320

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1558651099
• gnomAD v2: 2-25457211-TGACCGGCCCAGCA-T
• gnomAD v3: 2-25234342-TGACCGGCCCAGCA-T
• gnomAD v4: 2-25234342-TGACCGGCCCAGCA-T
• MyVariant Identifiers: chr2:g.25457212_25457224del (hg19) ; chr2:g.25234343_25234355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234344_25234356del , CM000664.2:g.25234344_25234356del	GRCh38
NC_000002.11:g.25457213_25457225del , CM000664.1:g.25457213_25457225del	GRCh37
NC_000002.10:g.25310717_25310729del	NCBI36
NG_029465.2:g.113236_113248del , LRG_459:g.113236_113248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.912_924del
ENST00000683393.1:c.1809_1821del	ENSP00000508654.1:n.1809_1821del
ENST00000683760.1:c.1994_2006del	ENSP00000507765.1:p.Leu665HisfsTer14
ENST00000321117.10:c.2663_2675del MANE Select	ENSP00000324375.5:p.Leu888HisfsTer14
ENST00000264709.7:c.2663_2675del	ENSP00000264709.3:p.Leu888HisfsTer14
ENST00000321117.9:c.2663_2675del	ENSP00000324375.5:p.Leu888HisfsTer14
ENST00000380746.8:c.2096_2108del	ENSP00000370122.4:p.Leu699HisfsTer14
ENST00000380756.7:c.*516_*528del	ENSP00000370132.3:n.*516_*528del
ENST00000402667.1:c.1994_2006del	ENSP00000384237.1:p.Leu665HisfsTer14
NM_022552.4:c.2663_2675del , LRG_459t1:c.2663_2675del	NP_072046.2:p.Leu888HisfsTer14
NM_153759.3:c.2096_2108del , LRG_459t2:c.2096_2108del	NP_715640.2:p.Leu699HisfsTer14
NM_175629.2:c.2663_2675del , LRG_459t4:c.2663_2675del	NP_783328.1:p.Leu888HisfsTer14
XM_005264175.3:c.2663_2675del	XP_005264232.1:p.Leu888HisfsTer14
XM_005264177.3:c.1994_2006del	XP_005264234.1:p.Leu665HisfsTer14
XM_006711958.2:c.2219_2231del	XP_006712021.1:p.Leu740HisfsTer14
XM_011532662.1:c.2516_2528del	XP_011530964.1:p.Leu839HisfsTer14
XM_011532663.1:c.2498_2510del	XP_011530965.1:p.Leu833HisfsTer14
XM_011532665.1:c.2207_2219del	XP_011530967.1:p.Leu736HisfsTer14
XM_011532666.1:c.2135_2147del	XP_011530968.1:p.Leu712HisfsTer14
XM_011532667.1:c.1994_2006del	XP_011530969.1:p.Leu665HisfsTer14
NM_001320893.1:c.2207_2219del	NP_001307822.1:p.Leu736HisfsTer14
NR_135490.1:n.3200_3212del
XM_005264175.5:c.2663_2675del	XP_005264232.1:p.Leu888HisfsTer14
XM_005264177.4:c.1994_2006del	XP_005264234.1:p.Leu665HisfsTer14
XM_011532662.2:c.2516_2528del	XP_011530964.1:p.Leu839HisfsTer14
XM_011532663.2:c.2498_2510del	XP_011530965.1:p.Leu833HisfsTer14
XM_011532666.2:c.2135_2147del	XP_011530968.1:p.Leu712HisfsTer14
XM_011532667.3:c.1994_2006del	XP_011530969.1:p.Leu665HisfsTer14
XM_017003526.1:c.2663_2675del	XP_016859015.1:p.Leu888HisfsTer14
XM_017003527.1:c.1994_2006del	XP_016859016.1:p.Leu665HisfsTer14
XR_001738657.1:n.2870_2882del
NM_001375819.1:c.1994_2006del	NP_001362748.1:p.Leu665HisfsTer14
NR_135490.2:n.3093_3105del
NM_022552.5:c.2663_2675del MANE Select	NP_072046.2:p.Leu888HisfsTer14