Canonical Allele Identifier: CA2576693903

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240349-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240352_25240353del , CM000664.2:g.25240352_25240353del	GRCh38
NC_000002.11:g.25463221_25463222del , CM000664.1:g.25463221_25463222del	GRCh37
NC_000002.10:g.25316725_25316726del	NCBI36
NG_029465.2:g.107240_107241del , LRG_459:g.107240_107241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.592_593del
ENST00000683393.1:c.1419_1420del	ENSP00000508654.1:n.1419_1420del
ENST00000683760.1:c.1604_1605del	ENSP00000507765.1:p.Val535GlyfsTer6
ENST00000321117.10:c.2273_2274del MANE Select	ENSP00000324375.5:p.Val758GlyfsTer6
ENST00000264709.7:c.2273_2274del	ENSP00000264709.3:p.Val758GlyfsTer6
ENST00000321117.9:c.2273_2274del	ENSP00000324375.5:p.Val758GlyfsTer6
ENST00000380746.8:c.1706_1707del	ENSP00000370122.4:p.Val569GlyfsTer6
ENST00000380756.7:c.2273_2274del	ENSP00000370132.3:p.Val758GlyfsTer6
ENST00000402667.1:c.1604_1605del	ENSP00000384237.1:p.Val535GlyfsTer6
ENST00000461228.1:n.492_493del
ENST00000466601.5:n.645_646del
ENST00000474887.5:n.592_593del
ENST00000482935.5:n.273_274del
ENST00000491288.5:n.310+289_310+290del
NM_022552.4:c.2273_2274del , LRG_459t1:c.2273_2274del	NP_072046.2:p.Val758GlyfsTer6
NM_153759.3:c.1706_1707del , LRG_459t2:c.1706_1707del	NP_715640.2:p.Val569GlyfsTer6
NM_175629.2:c.2273_2274del , LRG_459t4:c.2273_2274del	NP_783328.1:p.Val758GlyfsTer6
XM_005264175.3:c.2273_2274del	XP_005264232.1:p.Val758GlyfsTer6
XM_005264177.3:c.1604_1605del	XP_005264234.1:p.Val535GlyfsTer6
XM_006711957.2:c.2273_2274del	XP_006712020.1:p.Val758GlyfsTer6
XM_006711958.2:c.1829_1830del	XP_006712021.1:p.Val610GlyfsTer6
XM_011532662.1:c.2126_2127del	XP_011530964.1:p.Val709GlyfsTer6
XM_011532663.1:c.2108_2109del	XP_011530965.1:p.Val703GlyfsTer6
XM_011532664.1:c.2273_2274del	XP_011530966.1:p.Val758GlyfsTer6
XM_011532665.1:c.1817_1818del	XP_011530967.1:p.Val606GlyfsTer6
XM_011532666.1:c.1745_1746del	XP_011530968.1:p.Val582GlyfsTer6
XM_011532667.1:c.1604_1605del	XP_011530969.1:p.Val535GlyfsTer6
XM_011532668.1:c.2273_2274del	XP_011530970.1:p.Val758GlyfsTer6
NM_001320893.1:c.1817_1818del	NP_001307822.1:p.Val606GlyfsTer6
NR_135490.1:n.2611_2612del
XM_005264175.5:c.2273_2274del	XP_005264232.1:p.Val758GlyfsTer6
XM_005264177.4:c.1604_1605del	XP_005264234.1:p.Val535GlyfsTer6
XM_011532662.2:c.2126_2127del	XP_011530964.1:p.Val709GlyfsTer6
XM_011532663.2:c.2108_2109del	XP_011530965.1:p.Val703GlyfsTer6
XM_011532664.2:c.2273_2274del	XP_011530966.1:p.Val758GlyfsTer6
XM_011532666.2:c.1745_1746del	XP_011530968.1:p.Val582GlyfsTer6
XM_011532667.3:c.1604_1605del	XP_011530969.1:p.Val535GlyfsTer6
XM_017003526.1:c.2273_2274del	XP_016859015.1:p.Val758GlyfsTer6
XM_017003527.1:c.1604_1605del	XP_016859016.1:p.Val535GlyfsTer6
XR_001738657.1:n.2550_2551del
NM_001375819.1:c.1604_1605del	NP_001362748.1:p.Val535GlyfsTer6
NR_135490.2:n.2504_2505del
NM_022552.5:c.2273_2274del MANE Select	NP_072046.2:p.Val758GlyfsTer6