Canonical Allele Identifier: CA2658172141

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240367-AGAAGAAGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240370_25240380del , CM000664.2:g.25240370_25240380del	GRCh38
NC_000002.11:g.25463239_25463249del , CM000664.1:g.25463239_25463249del	GRCh37
NC_000002.10:g.25316743_25316753del	NCBI36
NG_029465.2:g.107213_107223del , LRG_459:g.107213_107223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.565_575del
ENST00000683393.1:c.1392_1402del	ENSP00000508654.1:n.1392_1402del
ENST00000683760.1:c.1577_1587del	ENSP00000507765.1:p.Arg526LeufsTer4
ENST00000321117.10:c.2246_2256del MANE Select	ENSP00000324375.5:p.Arg749LeufsTer4
ENST00000264709.7:c.2246_2256del	ENSP00000264709.3:p.Arg749LeufsTer4
ENST00000321117.9:c.2246_2256del	ENSP00000324375.5:p.Arg749LeufsTer4
ENST00000380746.8:c.1679_1689del	ENSP00000370122.4:p.Arg560LeufsTer4
ENST00000380756.7:c.2246_2256del	ENSP00000370132.3:p.Arg749LeufsTer4
ENST00000402667.1:c.1577_1587del	ENSP00000384237.1:p.Arg526LeufsTer4
ENST00000461228.1:n.465_475del
ENST00000466601.5:n.618_628del
ENST00000474887.5:n.565_575del
ENST00000482935.5:n.246_256del
ENST00000491288.5:n.310+262_310+272del
NM_022552.4:c.2246_2256del , LRG_459t1:c.2246_2256del	NP_072046.2:p.Arg749LeufsTer4
NM_153759.3:c.1679_1689del , LRG_459t2:c.1679_1689del	NP_715640.2:p.Arg560LeufsTer4
NM_175629.2:c.2246_2256del , LRG_459t4:c.2246_2256del	NP_783328.1:p.Arg749LeufsTer4
XM_005264175.3:c.2246_2256del	XP_005264232.1:p.Arg749LeufsTer4
XM_005264177.3:c.1577_1587del	XP_005264234.1:p.Arg526LeufsTer4
XM_006711957.2:c.2246_2256del	XP_006712020.1:p.Arg749LeufsTer4
XM_006711958.2:c.1802_1812del	XP_006712021.1:p.Arg601LeufsTer4
XM_011532662.1:c.2099_2109del	XP_011530964.1:p.Arg700LeufsTer4
XM_011532663.1:c.2081_2091del	XP_011530965.1:p.Arg694LeufsTer4
XM_011532664.1:c.2246_2256del	XP_011530966.1:p.Arg749LeufsTer4
XM_011532665.1:c.1790_1800del	XP_011530967.1:p.Arg597LeufsTer4
XM_011532666.1:c.1718_1728del	XP_011530968.1:p.Arg573LeufsTer4
XM_011532667.1:c.1577_1587del	XP_011530969.1:p.Arg526LeufsTer4
XM_011532668.1:c.2246_2256del	XP_011530970.1:p.Arg749LeufsTer4
NM_001320893.1:c.1790_1800del	NP_001307822.1:p.Arg597LeufsTer4
NR_135490.1:n.2584_2594del
XM_005264175.5:c.2246_2256del	XP_005264232.1:p.Arg749LeufsTer4
XM_005264177.4:c.1577_1587del	XP_005264234.1:p.Arg526LeufsTer4
XM_011532662.2:c.2099_2109del	XP_011530964.1:p.Arg700LeufsTer4
XM_011532663.2:c.2081_2091del	XP_011530965.1:p.Arg694LeufsTer4
XM_011532664.2:c.2246_2256del	XP_011530966.1:p.Arg749LeufsTer4
XM_011532666.2:c.1718_1728del	XP_011530968.1:p.Arg573LeufsTer4
XM_011532667.3:c.1577_1587del	XP_011530969.1:p.Arg526LeufsTer4
XM_017003526.1:c.2246_2256del	XP_016859015.1:p.Arg749LeufsTer4
XM_017003527.1:c.1577_1587del	XP_016859016.1:p.Arg526LeufsTer4
XR_001738657.1:n.2523_2533del
NM_001375819.1:c.1577_1587del	NP_001362748.1:p.Arg526LeufsTer4
NR_135490.2:n.2477_2487del
NM_022552.5:c.2246_2256del MANE Select	NP_072046.2:p.Arg749LeufsTer4