Canonical Allele Identifier: CA2658168145

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234331-GGCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234334_25234337del , CM000664.2:g.25234334_25234337del	GRCh38
NC_000002.11:g.25457203_25457206del , CM000664.1:g.25457203_25457206del	GRCh37
NC_000002.10:g.25310707_25310710del	NCBI36
NG_029465.2:g.113256_113259del , LRG_459:g.113256_113259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.932_935del
ENST00000683393.1:c.1829_1832del	ENSP00000508654.1:n.1829_1832del
ENST00000683760.1:c.2014_2017del	ENSP00000507765.1:p.Val672GlnfsTer10
ENST00000321117.10:c.2683_2686del MANE Select	ENSP00000324375.5:p.Val895GlnfsTer10
ENST00000264709.7:c.2683_2686del	ENSP00000264709.3:p.Val895GlnfsTer10
ENST00000321117.9:c.2683_2686del	ENSP00000324375.5:p.Val895GlnfsTer10
ENST00000380746.8:c.2116_2119del	ENSP00000370122.4:p.Val706GlnfsTer10
ENST00000380756.7:c.*536_*539del	ENSP00000370132.3:n.*536_*539del
ENST00000402667.1:c.2014_2017del	ENSP00000384237.1:p.Val672GlnfsTer10
NM_022552.4:c.2683_2686del , LRG_459t1:c.2683_2686del	NP_072046.2:p.Val895GlnfsTer10
NM_153759.3:c.2116_2119del , LRG_459t2:c.2116_2119del	NP_715640.2:p.Val706GlnfsTer10
NM_175629.2:c.2683_2686del , LRG_459t4:c.2683_2686del	NP_783328.1:p.Val895GlnfsTer10
XM_005264175.3:c.2683_2686del	XP_005264232.1:p.Val895GlnfsTer10
XM_005264177.3:c.2014_2017del	XP_005264234.1:p.Val672GlnfsTer10
XM_006711958.2:c.2239_2242del	XP_006712021.1:p.Val747GlnfsTer10
XM_011532662.1:c.2536_2539del	XP_011530964.1:p.Val846GlnfsTer10
XM_011532663.1:c.2518_2521del	XP_011530965.1:p.Val840GlnfsTer10
XM_011532665.1:c.2227_2230del	XP_011530967.1:p.Val743GlnfsTer10
XM_011532666.1:c.2155_2158del	XP_011530968.1:p.Val719GlnfsTer10
XM_011532667.1:c.2014_2017del	XP_011530969.1:p.Val672GlnfsTer10
NM_001320893.1:c.2227_2230del	NP_001307822.1:p.Val743GlnfsTer10
NR_135490.1:n.3220_3223del
XM_005264175.5:c.2683_2686del	XP_005264232.1:p.Val895GlnfsTer10
XM_005264177.4:c.2014_2017del	XP_005264234.1:p.Val672GlnfsTer10
XM_011532662.2:c.2536_2539del	XP_011530964.1:p.Val846GlnfsTer10
XM_011532663.2:c.2518_2521del	XP_011530965.1:p.Val840GlnfsTer10
XM_011532666.2:c.2155_2158del	XP_011530968.1:p.Val719GlnfsTer10
XM_011532667.3:c.2014_2017del	XP_011530969.1:p.Val672GlnfsTer10
XM_017003526.1:c.2683_2686del	XP_016859015.1:p.Val895GlnfsTer10
XM_017003527.1:c.2014_2017del	XP_016859016.1:p.Val672GlnfsTer10
XR_001738657.1:n.2890_2893del
NM_001375819.1:c.2014_2017del	NP_001362748.1:p.Val672GlnfsTer10
NR_135490.2:n.3113_3116del
NM_022552.5:c.2683_2686del MANE Select	NP_072046.2:p.Val895GlnfsTer10