Canonical Allele Identifier: CA1555667

Gene: DNMT3A

Linked Data

• dbSNP Id: rs780245706
• ExAC: 2:25463221 C / CTGAG
• MyVariant Identifiers: chr2:g.25463221_25463222insTGAG (hg19) ; chr2:g.25240352_25240353insTGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240352_25240353insTGAG , CM000664.2:g.25240352_25240353insTGAG	GRCh38
NC_000002.11:g.25463221_25463222insTGAG , CM000664.1:g.25463221_25463222insTGAG	GRCh37
NC_000002.10:g.25316725_25316726insTGAG	NCBI36
NG_029465.2:g.107238_107239insCTCA , LRG_459:g.107238_107239insCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.590_591insCTCA
ENST00000683393.1:c.1417_1418insCTCA	ENSP00000508654.1:n.1417_1418insCTCA
ENST00000683760.1:c.1602_1603insCTCA	ENSP00000507765.1:p.Val535LeufsTer8
ENST00000321117.10:c.2271_2272insCTCA MANE Select	ENSP00000324375.5:p.Val758LeufsTer8
ENST00000264709.7:c.2271_2272insCTCA	ENSP00000264709.3:p.Val758LeufsTer8
ENST00000321117.9:c.2271_2272insCTCA	ENSP00000324375.5:p.Val758LeufsTer8
ENST00000380746.8:c.1704_1705insCTCA	ENSP00000370122.4:p.Val569LeufsTer8
ENST00000380756.7:c.2271_2272insCTCA	ENSP00000370132.3:p.Val758LeufsTer8
ENST00000402667.1:c.1602_1603insCTCA	ENSP00000384237.1:p.Val535LeufsTer8
ENST00000461228.1:n.490_491insCTCA
ENST00000466601.5:n.643_644insCTCA
ENST00000474887.5:n.590_591insCTCA
ENST00000482935.5:n.271_272insCTCA
ENST00000491288.5:n.310+287_310+288insCTCA
NM_022552.4:c.2271_2272insCTCA , LRG_459t1:c.2271_2272insCTCA	NP_072046.2:p.Val758LeufsTer8
NM_153759.3:c.1704_1705insCTCA , LRG_459t2:c.1704_1705insCTCA	NP_715640.2:p.Val569LeufsTer8
NM_175629.2:c.2271_2272insCTCA , LRG_459t4:c.2271_2272insCTCA	NP_783328.1:p.Val758LeufsTer8
XM_005264175.3:c.2271_2272insCTCA	XP_005264232.1:p.Val758LeufsTer8
XM_005264177.3:c.1602_1603insCTCA	XP_005264234.1:p.Val535LeufsTer8
XM_006711957.2:c.2271_2272insCTCA	XP_006712020.1:p.Val758LeufsTer8
XM_006711958.2:c.1827_1828insCTCA	XP_006712021.1:p.Val610LeufsTer8
XM_011532662.1:c.2124_2125insCTCA	XP_011530964.1:p.Val709LeufsTer8
XM_011532663.1:c.2106_2107insCTCA	XP_011530965.1:p.Val703LeufsTer8
XM_011532664.1:c.2271_2272insCTCA	XP_011530966.1:p.Val758LeufsTer8
XM_011532665.1:c.1815_1816insCTCA	XP_011530967.1:p.Val606LeufsTer8
XM_011532666.1:c.1743_1744insCTCA	XP_011530968.1:p.Val582LeufsTer8
XM_011532667.1:c.1602_1603insCTCA	XP_011530969.1:p.Val535LeufsTer8
XM_011532668.1:c.2271_2272insCTCA	XP_011530970.1:p.Val758LeufsTer8
NM_001320893.1:c.1815_1816insCTCA	NP_001307822.1:p.Val606LeufsTer8
NR_135490.1:n.2609_2610insCTCA
XM_005264175.5:c.2271_2272insCTCA	XP_005264232.1:p.Val758LeufsTer8
XM_005264177.4:c.1602_1603insCTCA	XP_005264234.1:p.Val535LeufsTer8
XM_011532662.2:c.2124_2125insCTCA	XP_011530964.1:p.Val709LeufsTer8
XM_011532663.2:c.2106_2107insCTCA	XP_011530965.1:p.Val703LeufsTer8
XM_011532664.2:c.2271_2272insCTCA	XP_011530966.1:p.Val758LeufsTer8
XM_011532666.2:c.1743_1744insCTCA	XP_011530968.1:p.Val582LeufsTer8
XM_011532667.3:c.1602_1603insCTCA	XP_011530969.1:p.Val535LeufsTer8
XM_017003526.1:c.2271_2272insCTCA	XP_016859015.1:p.Val758LeufsTer8
XM_017003527.1:c.1602_1603insCTCA	XP_016859016.1:p.Val535LeufsTer8
XR_001738657.1:n.2548_2549insCTCA
NM_001375819.1:c.1602_1603insCTCA	NP_001362748.1:p.Val535LeufsTer8
NR_135490.2:n.2502_2503insCTCA
NM_022552.5:c.2271_2272insCTCA MANE Select	NP_072046.2:p.Val758LeufsTer8