Canonical Allele Identifier: CA2658168313

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234363-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234365_25234366del , CM000664.2:g.25234365_25234366del	GRCh38
NC_000002.11:g.25457234_25457235del , CM000664.1:g.25457234_25457235del	GRCh37
NC_000002.10:g.25310738_25310739del	NCBI36
NG_029465.2:g.113226_113227del , LRG_459:g.113226_113227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.902_903del
ENST00000683393.1:c.1799_1800del	ENSP00000508654.1:n.1799_1800del
ENST00000683760.1:c.1984_1985del	ENSP00000507765.1:p.Arg662AlafsTer?
ENST00000321117.10:c.2653_2654del MANE Select	ENSP00000324375.5:p.Arg885AlafsTer?
ENST00000264709.7:c.2653_2654del	ENSP00000264709.3:p.Arg885AlafsTer?
ENST00000321117.9:c.2653_2654del	ENSP00000324375.5:p.Arg885AlafsTer?
ENST00000380746.8:c.2086_2087del	ENSP00000370122.4:p.Arg696AlafsTer?
ENST00000380756.7:c.*506_*507del	ENSP00000370132.3:n.*506_*507del
ENST00000402667.1:c.1984_1985del	ENSP00000384237.1:p.Arg662AlafsTer?
NM_022552.4:c.2653_2654del , LRG_459t1:c.2653_2654del	NP_072046.2:p.Arg885AlafsTer?
NM_153759.3:c.2086_2087del , LRG_459t2:c.2086_2087del	NP_715640.2:p.Arg696AlafsTer?
NM_175629.2:c.2653_2654del , LRG_459t4:c.2653_2654del	NP_783328.1:p.Arg885AlafsTer?
XM_005264175.3:c.2653_2654del	XP_005264232.1:p.Arg885AlafsTer?
XM_005264177.3:c.1984_1985del	XP_005264234.1:p.Arg662AlafsTer?
XM_006711958.2:c.2209_2210del	XP_006712021.1:p.Arg737AlafsTer?
XM_011532662.1:c.2506_2507del	XP_011530964.1:p.Arg836AlafsTer?
XM_011532663.1:c.2488_2489del	XP_011530965.1:p.Arg830AlafsTer?
XM_011532665.1:c.2197_2198del	XP_011530967.1:p.Arg733AlafsTer?
XM_011532666.1:c.2125_2126del	XP_011530968.1:p.Arg709AlafsTer?
XM_011532667.1:c.1984_1985del	XP_011530969.1:p.Arg662AlafsTer?
NM_001320893.1:c.2197_2198del	NP_001307822.1:p.Arg733AlafsTer?
NR_135490.1:n.3190_3191del
XM_005264175.5:c.2653_2654del	XP_005264232.1:p.Arg885AlafsTer?
XM_005264177.4:c.1984_1985del	XP_005264234.1:p.Arg662AlafsTer?
XM_011532662.2:c.2506_2507del	XP_011530964.1:p.Arg836AlafsTer?
XM_011532663.2:c.2488_2489del	XP_011530965.1:p.Arg830AlafsTer?
XM_011532666.2:c.2125_2126del	XP_011530968.1:p.Arg709AlafsTer?
XM_011532667.3:c.1984_1985del	XP_011530969.1:p.Arg662AlafsTer?
XM_017003526.1:c.2653_2654del	XP_016859015.1:p.Arg885AlafsTer?
XM_017003527.1:c.1984_1985del	XP_016859016.1:p.Arg662AlafsTer?
XR_001738657.1:n.2860_2861del
NM_001375819.1:c.1984_1985del	NP_001362748.1:p.Arg662AlafsTer?
NR_135490.2:n.3083_3084del
NM_022552.5:c.2653_2654del MANE Select	NP_072046.2:p.Arg885AlafsTer?