Canonical Allele Identifier: CA2658171739

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240311-T-TCGCGAGATGTCCCTCTTGTCACTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240315_25240339dup , CM000664.2:g.25240315_25240339dup	GRCh38
NC_000002.11:g.25463184_25463208dup , CM000664.1:g.25463184_25463208dup	GRCh37
NC_000002.10:g.25316688_25316712dup	NCBI36
NG_029465.2:g.107255_107279dup , LRG_459:g.107255_107279dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.607_631dup
ENST00000683393.1:c.1434_1458dup	ENSP00000508654.1:n.1434_1458dup
ENST00000683760.1:c.1619_1643dup	ENSP00000507765.1:p.Phe549Ter
ENST00000321117.10:c.2288_2312dup MANE Select	ENSP00000324375.5:p.Phe772Ter
ENST00000264709.7:c.2288_2312dup	ENSP00000264709.3:p.Phe772Ter
ENST00000321117.9:c.2288_2312dup	ENSP00000324375.5:p.Phe772Ter
ENST00000380746.8:c.1721_1745dup	ENSP00000370122.4:p.Phe583Ter
ENST00000380756.7:c.2288_2312dup	ENSP00000370132.3:p.Phe772Ter
ENST00000402667.1:c.1619_1643dup	ENSP00000384237.1:p.Phe549Ter
ENST00000461228.1:n.507_531dup
ENST00000466601.5:n.660_684dup
ENST00000474887.5:n.607_631dup
ENST00000482935.5:n.288_312dup
ENST00000491288.5:n.310+304_310+328dup
NM_022552.4:c.2288_2312dup , LRG_459t1:c.2288_2312dup	NP_072046.2:p.Phe772Ter
NM_153759.3:c.1721_1745dup , LRG_459t2:c.1721_1745dup	NP_715640.2:p.Phe583Ter
NM_175629.2:c.2288_2312dup , LRG_459t4:c.2288_2312dup	NP_783328.1:p.Phe772Ter
XM_005264175.3:c.2288_2312dup	XP_005264232.1:p.Phe772Ter
XM_005264177.3:c.1619_1643dup	XP_005264234.1:p.Phe549Ter
XM_006711957.2:c.2288_2312dup	XP_006712020.1:p.Phe772Ter
XM_006711958.2:c.1844_1868dup	XP_006712021.1:p.Phe624Ter
XM_011532662.1:c.2141_2165dup	XP_011530964.1:p.Phe723Ter
XM_011532663.1:c.2123_2147dup	XP_011530965.1:p.Phe717Ter
XM_011532664.1:c.2288_2312dup	XP_011530966.1:p.Phe772Ter
XM_011532665.1:c.1832_1856dup	XP_011530967.1:p.Phe620Ter
XM_011532666.1:c.1760_1784dup	XP_011530968.1:p.Phe596Ter
XM_011532667.1:c.1619_1643dup	XP_011530969.1:p.Phe549Ter
XM_011532668.1:c.2288_2312dup	XP_011530970.1:p.Phe772Ter
NM_001320893.1:c.1832_1856dup	NP_001307822.1:p.Phe620Ter
NR_135490.1:n.2626_2650dup
XM_005264175.5:c.2288_2312dup	XP_005264232.1:p.Phe772Ter
XM_005264177.4:c.1619_1643dup	XP_005264234.1:p.Phe549Ter
XM_011532662.2:c.2141_2165dup	XP_011530964.1:p.Phe723Ter
XM_011532663.2:c.2123_2147dup	XP_011530965.1:p.Phe717Ter
XM_011532664.2:c.2288_2312dup	XP_011530966.1:p.Phe772Ter
XM_011532666.2:c.1760_1784dup	XP_011530968.1:p.Phe596Ter
XM_011532667.3:c.1619_1643dup	XP_011530969.1:p.Phe549Ter
XM_017003526.1:c.2288_2312dup	XP_016859015.1:p.Phe772Ter
XM_017003527.1:c.1619_1643dup	XP_016859016.1:p.Phe549Ter
XR_001738657.1:n.2565_2589dup
NM_001375819.1:c.1619_1643dup	NP_001362748.1:p.Phe549Ter
NR_135490.2:n.2519_2543dup
NM_022552.5:c.2288_2312dup MANE Select	NP_072046.2:p.Phe772Ter