Canonical Allele Identifier: CA767168968

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1242199635
• gnomAD v4: 2-25233948-CCAAA-C
• MyVariant Identifiers: chr2:g.25456818_25456821del (hg19) ; chr2:g.25233949_25233952del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25233955_25233958del , CM000664.2:g.25233955_25233958del	GRCh38
NC_000002.11:g.25456824_25456827del , CM000664.1:g.25456824_25456827del	GRCh37
NC_000002.10:g.25310328_25310331del	NCBI36
NG_029465.2:g.113639_113642del , LRG_459:g.113639_113642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683393.1:c.2212_2215del	ENSP00000508654.1:n.2212_2215del
ENST00000683760.1:c.*327_*330del	ENSP00000507765.1:n.*327_*330del
ENST00000321117.10:c.*327_*330del MANE Select	ENSP00000324375.5:n.*327_*330del
ENST00000264709.7:c.*327_*330del	ENSP00000264709.3:n.*327_*330del
ENST00000321117.9:c.*327_*330del	ENSP00000324375.5:n.*327_*330del
ENST00000380746.8:c.*327_*330del	ENSP00000370122.4:n.*327_*330del
ENST00000380756.7:c.*919_*922del	ENSP00000370132.3:n.*919_*922del
NM_022552.4:c.*327_*330del , LRG_459t1:c.*327_*330del	NP_072046.2:n.*327_*330del
NM_153759.3:c.*327_*330del , LRG_459t2:c.*327_*330del	NP_715640.2:n.*327_*330del
NM_175629.2:c.*327_*330del , LRG_459t4:c.*327_*330del	NP_783328.1:n.*327_*330del
XM_005264175.3:c.*327_*330del	XP_005264232.1:n.*327_*330del
XM_005264177.3:c.*327_*330del	XP_005264234.1:n.*327_*330del
XM_006711958.2:c.*327_*330del	XP_006712021.1:n.*327_*330del
XM_011532662.1:c.*327_*330del	XP_011530964.1:n.*327_*330del
XM_011532663.1:c.*327_*330del	XP_011530965.1:n.*327_*330del
XM_011532665.1:c.*327_*330del	XP_011530967.1:n.*327_*330del
XM_011532666.1:c.*327_*330del	XP_011530968.1:n.*327_*330del
XM_011532667.1:c.*327_*330del	XP_011530969.1:n.*327_*330del
NM_001320893.1:c.*327_*330del	NP_001307822.1:n.*327_*330del
NR_135490.1:n.3603_3606del
XM_005264175.5:c.*327_*330del	XP_005264232.1:n.*327_*330del
XM_005264177.4:c.*327_*330del	XP_005264234.1:n.*327_*330del
XM_011532662.2:c.*327_*330del	XP_011530964.1:n.*327_*330del
XM_011532663.2:c.*327_*330del	XP_011530965.1:n.*327_*330del
XM_011532666.2:c.*327_*330del	XP_011530968.1:n.*327_*330del
XM_011532667.3:c.*327_*330del	XP_011530969.1:n.*327_*330del
XM_017003526.1:c.*327_*330del	XP_016859015.1:n.*327_*330del
XM_017003527.1:c.*327_*330del	XP_016859016.1:n.*327_*330del
XR_001738657.1:n.3273_3276del
NM_001375819.1:c.*327_*330del	NP_001362748.1:n.*327_*330del
NR_135490.2:n.3496_3499del
NM_022552.5:c.*327_*330del MANE Select	NP_072046.2:n.*327_*330del