Canonical Allele Identifier: CA531368292

Gene: DNMT3A

Linked Data

• gnomAD v2: 2-25457159-CAA-C
• gnomAD v4: 2-25234290-CAA-C
• MyVariant Identifiers: chr2:g.25457160_25457161del (hg19) ; chr2:g.25234291_25234292del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234293_25234294del , CM000664.2:g.25234293_25234294del	GRCh38
NC_000002.11:g.25457162_25457163del , CM000664.1:g.25457162_25457163del	GRCh37
NC_000002.10:g.25310666_25310667del	NCBI36
NG_029465.2:g.113299_113300del , LRG_459:g.113299_113300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.975_976del
ENST00000683393.1:c.1872_1873del	ENSP00000508654.1:n.1872_1873del
ENST00000683760.1:c.2057_2058del	ENSP00000507765.1:p.Phe686CysfsTer11
ENST00000321117.10:c.2726_2727del MANE Select	ENSP00000324375.5:p.Phe909CysfsTer11
ENST00000264709.7:c.2726_2727del	ENSP00000264709.3:p.Phe909CysfsTer11
ENST00000321117.9:c.2726_2727del	ENSP00000324375.5:p.Phe909CysfsTer11
ENST00000380746.8:c.2159_2160del	ENSP00000370122.4:p.Phe720CysfsTer11
ENST00000380756.7:c.*579_*580del	ENSP00000370132.3:n.*579_*580del
ENST00000402667.1:c.2057_2058del	ENSP00000384237.1:p.Phe686CysfsTer11
NM_022552.4:c.2726_2727del , LRG_459t1:c.2726_2727del	NP_072046.2:p.Phe909CysfsTer11
NM_153759.3:c.2159_2160del , LRG_459t2:c.2159_2160del	NP_715640.2:p.Phe720CysfsTer11
NM_175629.2:c.2726_2727del , LRG_459t4:c.2726_2727del	NP_783328.1:p.Phe909CysfsTer11
XM_005264175.3:c.2726_2727del	XP_005264232.1:p.Phe909CysfsTer11
XM_005264177.3:c.2057_2058del	XP_005264234.1:p.Phe686CysfsTer11
XM_006711958.2:c.2282_2283del	XP_006712021.1:p.Phe761CysfsTer11
XM_011532662.1:c.2579_2580del	XP_011530964.1:p.Phe860CysfsTer11
XM_011532663.1:c.2561_2562del	XP_011530965.1:p.Phe854CysfsTer11
XM_011532665.1:c.2270_2271del	XP_011530967.1:p.Phe757CysfsTer11
XM_011532666.1:c.2198_2199del	XP_011530968.1:p.Phe733CysfsTer11
XM_011532667.1:c.2057_2058del	XP_011530969.1:p.Phe686CysfsTer11
NM_001320893.1:c.2270_2271del	NP_001307822.1:p.Phe757CysfsTer11
NR_135490.1:n.3263_3264del
XM_005264175.5:c.2726_2727del	XP_005264232.1:p.Phe909CysfsTer11
XM_005264177.4:c.2057_2058del	XP_005264234.1:p.Phe686CysfsTer11
XM_011532662.2:c.2579_2580del	XP_011530964.1:p.Phe860CysfsTer11
XM_011532663.2:c.2561_2562del	XP_011530965.1:p.Phe854CysfsTer11
XM_011532666.2:c.2198_2199del	XP_011530968.1:p.Phe733CysfsTer11
XM_011532667.3:c.2057_2058del	XP_011530969.1:p.Phe686CysfsTer11
XM_017003526.1:c.2726_2727del	XP_016859015.1:p.Phe909CysfsTer11
XM_017003527.1:c.2057_2058del	XP_016859016.1:p.Phe686CysfsTer11
XR_001738657.1:n.2933_2934del
NM_001375819.1:c.2057_2058del	NP_001362748.1:p.Phe686CysfsTer11
NR_135490.2:n.3156_3157del
NM_022552.5:c.2726_2727del MANE Select	NP_072046.2:p.Phe909CysfsTer11