Canonical Allele Identifier: CA2658168527

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25244224-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244225_25244226del , CM000664.2:g.25244225_25244226del	GRCh38
NC_000002.11:g.25467094_25467095del , CM000664.1:g.25467094_25467095del	GRCh37
NC_000002.10:g.25320598_25320599del	NCBI36
NG_029465.2:g.103365_103366del , LRG_459:g.103365_103366del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.99_100del
ENST00000683393.1:c.926_927del	ENSP00000508654.1:n.926_927del
ENST00000683760.1:c.1111_1112del	ENSP00000507765.1:p.Leu371AlafsTer17
ENST00000321117.10:c.1780_1781del MANE Select	ENSP00000324375.5:p.Leu594AlafsTer17
ENST00000264709.7:c.1780_1781del	ENSP00000264709.3:p.Leu594AlafsTer17
ENST00000321117.9:c.1780_1781del	ENSP00000324375.5:p.Leu594AlafsTer17
ENST00000380746.8:c.1213_1214del	ENSP00000370122.4:p.Leu405AlafsTer17
ENST00000380756.7:c.1780_1781del	ENSP00000370132.3:p.Leu594AlafsTer17
ENST00000402667.1:c.1111_1112del	ENSP00000384237.1:p.Leu371AlafsTer17
ENST00000474887.5:n.99_100del
NM_022552.4:c.1780_1781del , LRG_459t1:c.1780_1781del	NP_072046.2:p.Leu594AlafsTer17
NM_153759.3:c.1213_1214del , LRG_459t2:c.1213_1214del	NP_715640.2:p.Leu405AlafsTer17
NM_175629.2:c.1780_1781del , LRG_459t4:c.1780_1781del	NP_783328.1:p.Leu594AlafsTer17
XM_005264175.3:c.1780_1781del	XP_005264232.1:p.Leu594AlafsTer17
XM_005264177.3:c.1111_1112del	XP_005264234.1:p.Leu371AlafsTer17
XM_006711957.2:c.1780_1781del	XP_006712020.1:p.Leu594AlafsTer17
XM_006711958.2:c.1336_1337del	XP_006712021.1:p.Leu446AlafsTer17
XM_011532662.1:c.1633_1634del	XP_011530964.1:p.Leu545AlafsTer17
XM_011532663.1:c.1615_1616del	XP_011530965.1:p.Leu539AlafsTer17
XM_011532664.1:c.1780_1781del	XP_011530966.1:p.Leu594AlafsTer17
XM_011532665.1:c.1324_1325del	XP_011530967.1:p.Leu442AlafsTer17
XM_011532666.1:c.1252_1253del	XP_011530968.1:p.Leu418AlafsTer17
XM_011532667.1:c.1111_1112del	XP_011530969.1:p.Leu371AlafsTer17
XM_011532668.1:c.1780_1781del	XP_011530970.1:p.Leu594AlafsTer17
NM_001320893.1:c.1324_1325del	NP_001307822.1:p.Leu442AlafsTer17
NR_135490.1:n.2118_2119del
XM_005264175.5:c.1780_1781del	XP_005264232.1:p.Leu594AlafsTer17
XM_005264177.4:c.1111_1112del	XP_005264234.1:p.Leu371AlafsTer17
XM_011532662.2:c.1633_1634del	XP_011530964.1:p.Leu545AlafsTer17
XM_011532663.2:c.1615_1616del	XP_011530965.1:p.Leu539AlafsTer17
XM_011532664.2:c.1780_1781del	XP_011530966.1:p.Leu594AlafsTer17
XM_011532666.2:c.1252_1253del	XP_011530968.1:p.Leu418AlafsTer17
XM_011532667.3:c.1111_1112del	XP_011530969.1:p.Leu371AlafsTer17
XM_017003526.1:c.1780_1781del	XP_016859015.1:p.Leu594AlafsTer17
XM_017003527.1:c.1111_1112del	XP_016859016.1:p.Leu371AlafsTer17
XR_001738657.1:n.2057_2058del
NM_001375819.1:c.1111_1112del	NP_001362748.1:p.Leu371AlafsTer17
NR_135490.2:n.2011_2012del
NM_022552.5:c.1780_1781del MANE Select	NP_072046.2:p.Leu594AlafsTer17