Canonical Allele Identifier: CA767169042

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1336825801
• gnomAD v3: 2-25234226-TTTTG-T
• gnomAD v4: 2-25234226-TTTTG-T
• MyVariant Identifiers: chr2:g.25457096_25457099del (hg19) ; chr2:g.25234227_25234230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234238_25234241del , CM000664.2:g.25234238_25234241del	GRCh38
NC_000002.11:g.25457107_25457110del , CM000664.1:g.25457107_25457110del	GRCh37
NC_000002.10:g.25310611_25310614del	NCBI36
NG_029465.2:g.113361_113364del , LRG_459:g.113361_113364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683393.1:c.1934_1937del	ENSP00000508654.1:n.1934_1937del
ENST00000683760.1:c.*49_*52del	ENSP00000507765.1:n.*49_*52del
ENST00000321117.10:c.*49_*52del MANE Select	ENSP00000324375.5:n.*49_*52del
ENST00000264709.7:c.*49_*52del	ENSP00000264709.3:n.*49_*52del
ENST00000321117.9:c.*49_*52del	ENSP00000324375.5:n.*49_*52del
ENST00000380746.8:c.*49_*52del	ENSP00000370122.4:n.*49_*52del
ENST00000380756.7:c.*641_*644del	ENSP00000370132.3:n.*641_*644del
ENST00000402667.1:c.*49_*52del	ENSP00000384237.1:n.*49_*52del
NM_022552.4:c.*49_*52del , LRG_459t1:c.*49_*52del	NP_072046.2:n.*49_*52del
NM_153759.3:c.*49_*52del , LRG_459t2:c.*49_*52del	NP_715640.2:n.*49_*52del
NM_175629.2:c.*49_*52del , LRG_459t4:c.*49_*52del	NP_783328.1:n.*49_*52del
XM_005264175.3:c.*49_*52del	XP_005264232.1:n.*49_*52del
XM_005264177.3:c.*49_*52del	XP_005264234.1:n.*49_*52del
XM_006711958.2:c.*49_*52del	XP_006712021.1:n.*49_*52del
XM_011532662.1:c.*49_*52del	XP_011530964.1:n.*49_*52del
XM_011532663.1:c.*49_*52del	XP_011530965.1:n.*49_*52del
XM_011532665.1:c.*49_*52del	XP_011530967.1:n.*49_*52del
XM_011532666.1:c.*49_*52del	XP_011530968.1:n.*49_*52del
XM_011532667.1:c.*49_*52del	XP_011530969.1:n.*49_*52del
NM_001320893.1:c.*49_*52del	NP_001307822.1:n.*49_*52del
NR_135490.1:n.3325_3328del
XM_005264175.5:c.*49_*52del	XP_005264232.1:n.*49_*52del
XM_005264177.4:c.*49_*52del	XP_005264234.1:n.*49_*52del
XM_011532662.2:c.*49_*52del	XP_011530964.1:n.*49_*52del
XM_011532663.2:c.*49_*52del	XP_011530965.1:n.*49_*52del
XM_011532666.2:c.*49_*52del	XP_011530968.1:n.*49_*52del
XM_011532667.3:c.*49_*52del	XP_011530969.1:n.*49_*52del
XM_017003526.1:c.*49_*52del	XP_016859015.1:n.*49_*52del
XM_017003527.1:c.*49_*52del	XP_016859016.1:n.*49_*52del
XR_001738657.1:n.2995_2998del
NM_001375819.1:c.*49_*52del	NP_001362748.1:n.*49_*52del
NR_135490.2:n.3218_3221del
NM_022552.5:c.*49_*52del MANE Select	NP_072046.2:n.*49_*52del