Canonical Allele Identifier: CA2658168414

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234385-GAGACGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234388_25234394del , CM000664.2:g.25234388_25234394del	GRCh38
NC_000002.11:g.25457257_25457263del , CM000664.1:g.25457257_25457263del	GRCh37
NC_000002.10:g.25310761_25310767del	NCBI36
NG_029465.2:g.113199_113205del , LRG_459:g.113199_113205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.875_881del
ENST00000683393.1:c.1772_1778del	ENSP00000508654.1:n.1772_1778del
ENST00000683760.1:c.1957_1963del	ENSP00000507765.1:p.Asp653ProfsTer3
ENST00000321117.10:c.2626_2632del MANE Select	ENSP00000324375.5:p.Asp876ProfsTer3
ENST00000264709.7:c.2626_2632del	ENSP00000264709.3:p.Asp876ProfsTer3
ENST00000321117.9:c.2626_2632del	ENSP00000324375.5:p.Asp876ProfsTer3
ENST00000380746.8:c.2059_2065del	ENSP00000370122.4:p.Asp687ProfsTer3
ENST00000380756.7:c.*479_*485del	ENSP00000370132.3:n.*479_*485del
ENST00000402667.1:c.1957_1963del	ENSP00000384237.1:p.Asp653ProfsTer3
NM_022552.4:c.2626_2632del , LRG_459t1:c.2626_2632del	NP_072046.2:p.Asp876ProfsTer3
NM_153759.3:c.2059_2065del , LRG_459t2:c.2059_2065del	NP_715640.2:p.Asp687ProfsTer3
NM_175629.2:c.2626_2632del , LRG_459t4:c.2626_2632del	NP_783328.1:p.Asp876ProfsTer3
XM_005264175.3:c.2626_2632del	XP_005264232.1:p.Asp876ProfsTer3
XM_005264177.3:c.1957_1963del	XP_005264234.1:p.Asp653ProfsTer3
XM_006711958.2:c.2182_2188del	XP_006712021.1:p.Asp728ProfsTer3
XM_011532662.1:c.2479_2485del	XP_011530964.1:p.Asp827ProfsTer3
XM_011532663.1:c.2461_2467del	XP_011530965.1:p.Asp821ProfsTer3
XM_011532665.1:c.2170_2176del	XP_011530967.1:p.Asp724ProfsTer3
XM_011532666.1:c.2098_2104del	XP_011530968.1:p.Asp700ProfsTer3
XM_011532667.1:c.1957_1963del	XP_011530969.1:p.Asp653ProfsTer3
NM_001320893.1:c.2170_2176del	NP_001307822.1:p.Asp724ProfsTer3
NR_135490.1:n.3163_3169del
XM_005264175.5:c.2626_2632del	XP_005264232.1:p.Asp876ProfsTer3
XM_005264177.4:c.1957_1963del	XP_005264234.1:p.Asp653ProfsTer3
XM_011532662.2:c.2479_2485del	XP_011530964.1:p.Asp827ProfsTer3
XM_011532663.2:c.2461_2467del	XP_011530965.1:p.Asp821ProfsTer3
XM_011532666.2:c.2098_2104del	XP_011530968.1:p.Asp700ProfsTer3
XM_011532667.3:c.1957_1963del	XP_011530969.1:p.Asp653ProfsTer3
XM_017003526.1:c.2626_2632del	XP_016859015.1:p.Asp876ProfsTer3
XM_017003527.1:c.1957_1963del	XP_016859016.1:p.Asp653ProfsTer3
XR_001738657.1:n.2833_2839del
NM_001375819.1:c.1957_1963del	NP_001362748.1:p.Asp653ProfsTer3
NR_135490.2:n.3056_3062del
NM_022552.5:c.2626_2632del MANE Select	NP_072046.2:p.Asp876ProfsTer3