Canonical Allele Identifier: CA2658171953

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240337-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240337_25240338insA , CM000664.2:g.25240337_25240338insA	GRCh38
NC_000002.11:g.25463206_25463207insA , CM000664.1:g.25463206_25463207insA	GRCh37
NC_000002.10:g.25316710_25316711insA	NCBI36
NG_029465.2:g.107253_107254insT , LRG_459:g.107253_107254insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.605_606insT
ENST00000683393.1:c.1432_1433insT	ENSP00000508654.1:n.1432_1433insT
ENST00000683760.1:c.1617_1618insT	ENSP00000507765.1:p.Val540CysfsTer2
ENST00000321117.10:c.2286_2287insT MANE Select	ENSP00000324375.5:p.Val763CysfsTer2
ENST00000264709.7:c.2286_2287insT	ENSP00000264709.3:p.Val763CysfsTer2
ENST00000321117.9:c.2286_2287insT	ENSP00000324375.5:p.Val763CysfsTer2
ENST00000380746.8:c.1719_1720insT	ENSP00000370122.4:p.Val574CysfsTer2
ENST00000380756.7:c.2286_2287insT	ENSP00000370132.3:p.Val763CysfsTer2
ENST00000402667.1:c.1617_1618insT	ENSP00000384237.1:p.Val540CysfsTer2
ENST00000461228.1:n.505_506insT
ENST00000466601.5:n.658_659insT
ENST00000474887.5:n.605_606insT
ENST00000482935.5:n.286_287insT
ENST00000491288.5:n.310+302_310+303insT
NM_022552.4:c.2286_2287insT , LRG_459t1:c.2286_2287insT	NP_072046.2:p.Val763CysfsTer2
NM_153759.3:c.1719_1720insT , LRG_459t2:c.1719_1720insT	NP_715640.2:p.Val574CysfsTer2
NM_175629.2:c.2286_2287insT , LRG_459t4:c.2286_2287insT	NP_783328.1:p.Val763CysfsTer2
XM_005264175.3:c.2286_2287insT	XP_005264232.1:p.Val763CysfsTer2
XM_005264177.3:c.1617_1618insT	XP_005264234.1:p.Val540CysfsTer2
XM_006711957.2:c.2286_2287insT	XP_006712020.1:p.Val763CysfsTer2
XM_006711958.2:c.1842_1843insT	XP_006712021.1:p.Val615CysfsTer2
XM_011532662.1:c.2139_2140insT	XP_011530964.1:p.Val714CysfsTer2
XM_011532663.1:c.2121_2122insT	XP_011530965.1:p.Val708CysfsTer2
XM_011532664.1:c.2286_2287insT	XP_011530966.1:p.Val763CysfsTer2
XM_011532665.1:c.1830_1831insT	XP_011530967.1:p.Val611CysfsTer2
XM_011532666.1:c.1758_1759insT	XP_011530968.1:p.Val587CysfsTer2
XM_011532667.1:c.1617_1618insT	XP_011530969.1:p.Val540CysfsTer2
XM_011532668.1:c.2286_2287insT	XP_011530970.1:p.Val763CysfsTer2
NM_001320893.1:c.1830_1831insT	NP_001307822.1:p.Val611CysfsTer2
NR_135490.1:n.2624_2625insT
XM_005264175.5:c.2286_2287insT	XP_005264232.1:p.Val763CysfsTer2
XM_005264177.4:c.1617_1618insT	XP_005264234.1:p.Val540CysfsTer2
XM_011532662.2:c.2139_2140insT	XP_011530964.1:p.Val714CysfsTer2
XM_011532663.2:c.2121_2122insT	XP_011530965.1:p.Val708CysfsTer2
XM_011532664.2:c.2286_2287insT	XP_011530966.1:p.Val763CysfsTer2
XM_011532666.2:c.1758_1759insT	XP_011530968.1:p.Val587CysfsTer2
XM_011532667.3:c.1617_1618insT	XP_011530969.1:p.Val540CysfsTer2
XM_017003526.1:c.2286_2287insT	XP_016859015.1:p.Val763CysfsTer2
XM_017003527.1:c.1617_1618insT	XP_016859016.1:p.Val540CysfsTer2
XR_001738657.1:n.2563_2564insT
NM_001375819.1:c.1617_1618insT	NP_001362748.1:p.Val540CysfsTer2
NR_135490.2:n.2517_2518insT
NM_022552.5:c.2286_2287insT MANE Select	NP_072046.2:p.Val763CysfsTer2