Canonical Allele Identifier: CA2523588083

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 1316389
• ClinVar RCV Id: RCV001766295
• dbSNP Id: rs2149252129

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234287_25234288del , CM000664.2:g.25234287_25234288del	GRCh38
NC_000002.11:g.25457156_25457157del , CM000664.1:g.25457156_25457157del	GRCh37
NC_000002.10:g.25310660_25310661del	NCBI36
NG_029465.2:g.113309_113310del , LRG_459:g.113309_113310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.985_986del
ENST00000683393.1:c.1882_1883del	ENSP00000508654.1:n.1882_1883del
ENST00000683760.1:c.2067_2068del	ENSP00000507765.1:p.Ter690ArgextTer7
ENST00000321117.10:c.2736_2737del MANE Select	ENSP00000324375.5:p.Ter913ArgextTer7
ENST00000264709.7:c.2736_2737del	ENSP00000264709.3:p.Ter913ArgextTer7
ENST00000321117.9:c.2736_2737del	ENSP00000324375.5:p.Ter913ArgextTer7
ENST00000380746.8:c.2169_2170del	ENSP00000370122.4:p.Ter724ArgextTer7
ENST00000380756.7:c.*589_*590del	ENSP00000370132.3:n.*589_*590del
ENST00000402667.1:c.2067_2068del	ENSP00000384237.1:p.Ter690ArgextTer7
NM_022552.4:c.2736_2737del , LRG_459t1:c.2736_2737del	NP_072046.2:p.Ter913ArgextTer7
NM_153759.3:c.2169_2170del , LRG_459t2:c.2169_2170del	NP_715640.2:p.Ter724ArgextTer7
NM_175629.2:c.2736_2737del , LRG_459t4:c.2736_2737del	NP_783328.1:p.Ter913ArgextTer7
XM_005264175.3:c.2736_2737del	XP_005264232.1:p.Ter913ArgextTer7
XM_005264177.3:c.2067_2068del	XP_005264234.1:p.Ter690ArgextTer7
XM_006711958.2:c.2292_2293del	XP_006712021.1:p.Ter765ArgextTer7
XM_011532662.1:c.2589_2590del	XP_011530964.1:p.Ter864ArgextTer7
XM_011532663.1:c.2571_2572del	XP_011530965.1:p.Ter858ArgextTer7
XM_011532665.1:c.2280_2281del	XP_011530967.1:p.Ter761ArgextTer7
XM_011532666.1:c.2208_2209del	XP_011530968.1:p.Ter737ArgextTer7
XM_011532667.1:c.2067_2068del	XP_011530969.1:p.Ter690ArgextTer7
NM_001320893.1:c.2280_2281del	NP_001307822.1:p.Ter761ArgextTer7
NR_135490.1:n.3273_3274del
XM_005264175.5:c.2736_2737del	XP_005264232.1:p.Ter913ArgextTer7
XM_005264177.4:c.2067_2068del	XP_005264234.1:p.Ter690ArgextTer7
XM_011532662.2:c.2589_2590del	XP_011530964.1:p.Ter864ArgextTer7
XM_011532663.2:c.2571_2572del	XP_011530965.1:p.Ter858ArgextTer7
XM_011532666.2:c.2208_2209del	XP_011530968.1:p.Ter737ArgextTer7
XM_011532667.3:c.2067_2068del	XP_011530969.1:p.Ter690ArgextTer7
XM_017003526.1:c.2736_2737del	XP_016859015.1:p.Ter913ArgextTer7
XM_017003527.1:c.2067_2068del	XP_016859016.1:p.Ter690ArgextTer7
XR_001738657.1:n.2943_2944del
NM_001375819.1:c.2067_2068del	NP_001362748.1:p.Ter690ArgextTer7
NR_135490.2:n.3166_3167del
NM_022552.5:c.2736_2737del MANE Select	NP_072046.2:p.Ter913ArgextTer7