Canonical Allele Identifier: CA1555665

Gene: DNMT3A

Linked Data

• dbSNP Id: rs758689399
• ExAC: 2:25463206 C / CTTTA
• gnomAD v2: 2-25463206-C-CTTTA
• gnomAD v4: 2-25240337-C-CTTTA
• MyVariant Identifiers: chr2:g.25463206_25463207insTTTA (hg19) ; chr2:g.25240337_25240338insTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240337_25240338insTTTA , CM000664.2:g.25240337_25240338insTTTA	GRCh38
NC_000002.11:g.25463206_25463207insTTTA , CM000664.1:g.25463206_25463207insTTTA	GRCh37
NC_000002.10:g.25316710_25316711insTTTA	NCBI36
NG_029465.2:g.107253_107254insTAAA , LRG_459:g.107253_107254insTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.605_606insTAAA
ENST00000683393.1:c.1432_1433insTAAA	ENSP00000508654.1:n.1432_1433insTAAA
ENST00000683760.1:c.1617_1618insTAAA	ENSP00000507765.1:p.Val540Ter
ENST00000321117.10:c.2286_2287insTAAA MANE Select	ENSP00000324375.5:p.Val763Ter
ENST00000264709.7:c.2286_2287insTAAA	ENSP00000264709.3:p.Val763Ter
ENST00000321117.9:c.2286_2287insTAAA	ENSP00000324375.5:p.Val763Ter
ENST00000380746.8:c.1719_1720insTAAA	ENSP00000370122.4:p.Val574Ter
ENST00000380756.7:c.2286_2287insTAAA	ENSP00000370132.3:p.Val763Ter
ENST00000402667.1:c.1617_1618insTAAA	ENSP00000384237.1:p.Val540Ter
ENST00000461228.1:n.505_506insTAAA
ENST00000466601.5:n.658_659insTAAA
ENST00000474887.5:n.605_606insTAAA
ENST00000482935.5:n.286_287insTAAA
ENST00000491288.5:n.310+302_310+303insTAAA
NM_022552.4:c.2286_2287insTAAA , LRG_459t1:c.2286_2287insTAAA	NP_072046.2:p.Val763Ter
NM_153759.3:c.1719_1720insTAAA , LRG_459t2:c.1719_1720insTAAA	NP_715640.2:p.Val574Ter
NM_175629.2:c.2286_2287insTAAA , LRG_459t4:c.2286_2287insTAAA	NP_783328.1:p.Val763Ter
XM_005264175.3:c.2286_2287insTAAA	XP_005264232.1:p.Val763Ter
XM_005264177.3:c.1617_1618insTAAA	XP_005264234.1:p.Val540Ter
XM_006711957.2:c.2286_2287insTAAA	XP_006712020.1:p.Val763Ter
XM_006711958.2:c.1842_1843insTAAA	XP_006712021.1:p.Val615Ter
XM_011532662.1:c.2139_2140insTAAA	XP_011530964.1:p.Val714Ter
XM_011532663.1:c.2121_2122insTAAA	XP_011530965.1:p.Val708Ter
XM_011532664.1:c.2286_2287insTAAA	XP_011530966.1:p.Val763Ter
XM_011532665.1:c.1830_1831insTAAA	XP_011530967.1:p.Val611Ter
XM_011532666.1:c.1758_1759insTAAA	XP_011530968.1:p.Val587Ter
XM_011532667.1:c.1617_1618insTAAA	XP_011530969.1:p.Val540Ter
XM_011532668.1:c.2286_2287insTAAA	XP_011530970.1:p.Val763Ter
NM_001320893.1:c.1830_1831insTAAA	NP_001307822.1:p.Val611Ter
NR_135490.1:n.2624_2625insTAAA
XM_005264175.5:c.2286_2287insTAAA	XP_005264232.1:p.Val763Ter
XM_005264177.4:c.1617_1618insTAAA	XP_005264234.1:p.Val540Ter
XM_011532662.2:c.2139_2140insTAAA	XP_011530964.1:p.Val714Ter
XM_011532663.2:c.2121_2122insTAAA	XP_011530965.1:p.Val708Ter
XM_011532664.2:c.2286_2287insTAAA	XP_011530966.1:p.Val763Ter
XM_011532666.2:c.1758_1759insTAAA	XP_011530968.1:p.Val587Ter
XM_011532667.3:c.1617_1618insTAAA	XP_011530969.1:p.Val540Ter
XM_017003526.1:c.2286_2287insTAAA	XP_016859015.1:p.Val763Ter
XM_017003527.1:c.1617_1618insTAAA	XP_016859016.1:p.Val540Ter
XR_001738657.1:n.2563_2564insTAAA
NM_001375819.1:c.1617_1618insTAAA	NP_001362748.1:p.Val540Ter
NR_135490.2:n.2517_2518insTAAA
NM_022552.5:c.2286_2287insTAAA MANE Select	NP_072046.2:p.Val763Ter