Canonical Allele Identifier: CA2699055073

Gene: DNMT3A

Linked Data

• dbSNP Id: rs2149252163

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234286_25234293del , CM000664.2:g.25234286_25234293del	GRCh38
NC_000002.11:g.25457155_25457162del , CM000664.1:g.25457155_25457162del	GRCh37
NC_000002.10:g.25310659_25310666del	NCBI36
NG_029465.2:g.113299_113306del , LRG_459:g.113299_113306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.975_982del
ENST00000683393.1:c.1872_1879del	ENSP00000508654.1:n.1872_1879del
ENST00000683760.1:c.2057_2064del	ENSP00000507765.1:p.Phe686CysfsTer9
ENST00000321117.10:c.2726_2733del MANE Select	ENSP00000324375.5:p.Phe909CysfsTer9
ENST00000264709.7:c.2726_2733del	ENSP00000264709.3:p.Phe909CysfsTer9
ENST00000321117.9:c.2726_2733del	ENSP00000324375.5:p.Phe909CysfsTer9
ENST00000380746.8:c.2159_2166del	ENSP00000370122.4:p.Phe720CysfsTer9
ENST00000380756.7:c.*579_*586del	ENSP00000370132.3:n.*579_*586del
ENST00000402667.1:c.2057_2064del	ENSP00000384237.1:p.Phe686CysfsTer9
NM_022552.4:c.2726_2733del , LRG_459t1:c.2726_2733del	NP_072046.2:p.Phe909CysfsTer9
NM_153759.3:c.2159_2166del , LRG_459t2:c.2159_2166del	NP_715640.2:p.Phe720CysfsTer9
NM_175629.2:c.2726_2733del , LRG_459t4:c.2726_2733del	NP_783328.1:p.Phe909CysfsTer9
XM_005264175.3:c.2726_2733del	XP_005264232.1:p.Phe909CysfsTer9
XM_005264177.3:c.2057_2064del	XP_005264234.1:p.Phe686CysfsTer9
XM_006711958.2:c.2282_2289del	XP_006712021.1:p.Phe761CysfsTer9
XM_011532662.1:c.2579_2586del	XP_011530964.1:p.Phe860CysfsTer9
XM_011532663.1:c.2561_2568del	XP_011530965.1:p.Phe854CysfsTer9
XM_011532665.1:c.2270_2277del	XP_011530967.1:p.Phe757CysfsTer9
XM_011532666.1:c.2198_2205del	XP_011530968.1:p.Phe733CysfsTer9
XM_011532667.1:c.2057_2064del	XP_011530969.1:p.Phe686CysfsTer9
NM_001320893.1:c.2270_2277del	NP_001307822.1:p.Phe757CysfsTer9
NR_135490.1:n.3263_3270del
XM_005264175.5:c.2726_2733del	XP_005264232.1:p.Phe909CysfsTer9
XM_005264177.4:c.2057_2064del	XP_005264234.1:p.Phe686CysfsTer9
XM_011532662.2:c.2579_2586del	XP_011530964.1:p.Phe860CysfsTer9
XM_011532663.2:c.2561_2568del	XP_011530965.1:p.Phe854CysfsTer9
XM_011532666.2:c.2198_2205del	XP_011530968.1:p.Phe733CysfsTer9
XM_011532667.3:c.2057_2064del	XP_011530969.1:p.Phe686CysfsTer9
XM_017003526.1:c.2726_2733del	XP_016859015.1:p.Phe909CysfsTer9
XM_017003527.1:c.2057_2064del	XP_016859016.1:p.Phe686CysfsTer9
XR_001738657.1:n.2933_2940del
NM_001375819.1:c.2057_2064del	NP_001362748.1:p.Phe686CysfsTer9
NR_135490.2:n.3156_3163del
NM_022552.5:c.2726_2733del MANE Select	NP_072046.2:p.Phe909CysfsTer9