Canonical Allele Identifier: CA2658171748

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240311-TCGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240312_25240315del , CM000664.2:g.25240312_25240315del	GRCh38
NC_000002.11:g.25463181_25463184del , CM000664.1:g.25463181_25463184del	GRCh37
NC_000002.10:g.25316685_25316688del	NCBI36
NG_029465.2:g.107276_107279del , LRG_459:g.107276_107279del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.628_631del
ENST00000683393.1:c.1455_1458del	ENSP00000508654.1:n.1455_1458del
ENST00000683760.1:c.1640_1643del	ENSP00000507765.1:p.Ser547TyrfsTer8
ENST00000321117.10:c.2309_2312del MANE Select	ENSP00000324375.5:p.Ser770TyrfsTer8
ENST00000264709.7:c.2309_2312del	ENSP00000264709.3:p.Ser770TyrfsTer8
ENST00000321117.9:c.2309_2312del	ENSP00000324375.5:p.Ser770TyrfsTer8
ENST00000380746.8:c.1742_1745del	ENSP00000370122.4:p.Ser581TyrfsTer8
ENST00000380756.7:c.2309_2312del	ENSP00000370132.3:p.Ser770TyrfsTer?
ENST00000402667.1:c.1640_1643del	ENSP00000384237.1:p.Ser547TyrfsTer8
ENST00000461228.1:n.528_531del
ENST00000466601.5:n.681_684del
ENST00000474887.5:n.628_631del
ENST00000482935.5:n.309_312del
ENST00000491288.5:n.310+325_310+328del
NM_022552.4:c.2309_2312del , LRG_459t1:c.2309_2312del	NP_072046.2:p.Ser770TyrfsTer8
NM_153759.3:c.1742_1745del , LRG_459t2:c.1742_1745del	NP_715640.2:p.Ser581TyrfsTer8
NM_175629.2:c.2309_2312del , LRG_459t4:c.2309_2312del	NP_783328.1:p.Ser770TyrfsTer8
XM_005264175.3:c.2309_2312del	XP_005264232.1:p.Ser770TyrfsTer8
XM_005264177.3:c.1640_1643del	XP_005264234.1:p.Ser547TyrfsTer8
XM_006711957.2:c.2309_2312del	XP_006712020.1:p.Ser770TyrfsTer8
XM_006711958.2:c.1865_1868del	XP_006712021.1:p.Ser622TyrfsTer8
XM_011532662.1:c.2162_2165del	XP_011530964.1:p.Ser721TyrfsTer8
XM_011532663.1:c.2144_2147del	XP_011530965.1:p.Ser715TyrfsTer8
XM_011532664.1:c.2309_2312del	XP_011530966.1:p.Ser770TyrfsTer?
XM_011532665.1:c.1853_1856del	XP_011530967.1:p.Ser618TyrfsTer8
XM_011532666.1:c.1781_1784del	XP_011530968.1:p.Ser594TyrfsTer8
XM_011532667.1:c.1640_1643del	XP_011530969.1:p.Ser547TyrfsTer8
XM_011532668.1:c.2309_2312del	XP_011530970.1:p.Ser770TyrfsTer?
NM_001320893.1:c.1853_1856del	NP_001307822.1:p.Ser618TyrfsTer8
NR_135490.1:n.2647_2650del
XM_005264175.5:c.2309_2312del	XP_005264232.1:p.Ser770TyrfsTer8
XM_005264177.4:c.1640_1643del	XP_005264234.1:p.Ser547TyrfsTer8
XM_011532662.2:c.2162_2165del	XP_011530964.1:p.Ser721TyrfsTer8
XM_011532663.2:c.2144_2147del	XP_011530965.1:p.Ser715TyrfsTer8
XM_011532664.2:c.2309_2312del	XP_011530966.1:p.Ser770TyrfsTer?
XM_011532666.2:c.1781_1784del	XP_011530968.1:p.Ser594TyrfsTer8
XM_011532667.3:c.1640_1643del	XP_011530969.1:p.Ser547TyrfsTer8
XM_017003526.1:c.2309_2312del	XP_016859015.1:p.Ser770TyrfsTer8
XM_017003527.1:c.1640_1643del	XP_016859016.1:p.Ser547TyrfsTer8
XR_001738657.1:n.2586_2589del
NM_001375819.1:c.1640_1643del	NP_001362748.1:p.Ser547TyrfsTer8
NR_135490.2:n.2540_2543del
NM_022552.5:c.2309_2312del MANE Select	NP_072046.2:p.Ser770TyrfsTer8