Canonical Allele Identifier: CA1555654

Gene: DNMT3A

Linked Data

• dbSNP Id: rs765354277
• ExAC: 2:25463174 GAGAAATCGCGAGAT / G
• gnomAD v2: 2-25463174-GAGAAATCGCGAGAT-G
• gnomAD v4: 2-25240305-GAGAAATCGCGAGAT-G
• MyVariant Identifiers: chr2:g.25463175_25463188del (hg19) ; chr2:g.25240306_25240319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240306_25240319del , CM000664.2:g.25240306_25240319del	GRCh38
NC_000002.11:g.25463175_25463188del , CM000664.1:g.25463175_25463188del	GRCh37
NC_000002.10:g.25316679_25316692del	NCBI36
NG_029465.2:g.107272_107285del , LRG_459:g.107272_107285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.624_637del
ENST00000683393.1:c.1451_1464del	ENSP00000508654.1:n.1451_1464del
ENST00000683760.1:c.1636_1649del	ENSP00000507765.1:p.Ile546ArgfsTer8
ENST00000321117.10:c.2305_2318del MANE Select	ENSP00000324375.5:p.Ile769ArgfsTer8
ENST00000264709.7:c.2305_2318del	ENSP00000264709.3:p.Ile769ArgfsTer8
ENST00000321117.9:c.2305_2318del	ENSP00000324375.5:p.Ile769ArgfsTer8
ENST00000380746.8:c.1738_1751del	ENSP00000370122.4:p.Ile580ArgfsTer8
ENST00000380756.7:c.2305_2318del	ENSP00000370132.3:p.Ile769ArgfsTer5
ENST00000402667.1:c.1636_1649del	ENSP00000384237.1:p.Ile546ArgfsTer8
ENST00000461228.1:n.524_537del
ENST00000466601.5:n.677_690del
ENST00000474887.5:n.624_637del
ENST00000482935.5:n.305_318del
ENST00000491288.5:n.310+321_310+334del
NM_022552.4:c.2305_2318del , LRG_459t1:c.2305_2318del	NP_072046.2:p.Ile769ArgfsTer8
NM_153759.3:c.1738_1751del , LRG_459t2:c.1738_1751del	NP_715640.2:p.Ile580ArgfsTer8
NM_175629.2:c.2305_2318del , LRG_459t4:c.2305_2318del	NP_783328.1:p.Ile769ArgfsTer8
XM_005264175.3:c.2305_2318del	XP_005264232.1:p.Ile769ArgfsTer8
XM_005264177.3:c.1636_1649del	XP_005264234.1:p.Ile546ArgfsTer8
XM_006711957.2:c.2305_2318del	XP_006712020.1:p.Ile769ArgfsTer8
XM_006711958.2:c.1861_1874del	XP_006712021.1:p.Ile621ArgfsTer8
XM_011532662.1:c.2158_2171del	XP_011530964.1:p.Ile720ArgfsTer8
XM_011532663.1:c.2140_2153del	XP_011530965.1:p.Ile714ArgfsTer8
XM_011532664.1:c.2305_2318del	XP_011530966.1:p.Ile769ArgfsTer5
XM_011532665.1:c.1849_1862del	XP_011530967.1:p.Ile617ArgfsTer8
XM_011532666.1:c.1777_1790del	XP_011530968.1:p.Ile593ArgfsTer8
XM_011532667.1:c.1636_1649del	XP_011530969.1:p.Ile546ArgfsTer8
XM_011532668.1:c.2305_2318del	XP_011530970.1:p.Ile769ArgfsTer5
NM_001320893.1:c.1849_1862del	NP_001307822.1:p.Ile617ArgfsTer8
NR_135490.1:n.2643_2656del
XM_005264175.5:c.2305_2318del	XP_005264232.1:p.Ile769ArgfsTer8
XM_005264177.4:c.1636_1649del	XP_005264234.1:p.Ile546ArgfsTer8
XM_011532662.2:c.2158_2171del	XP_011530964.1:p.Ile720ArgfsTer8
XM_011532663.2:c.2140_2153del	XP_011530965.1:p.Ile714ArgfsTer8
XM_011532664.2:c.2305_2318del	XP_011530966.1:p.Ile769ArgfsTer5
XM_011532666.2:c.1777_1790del	XP_011530968.1:p.Ile593ArgfsTer8
XM_011532667.3:c.1636_1649del	XP_011530969.1:p.Ile546ArgfsTer8
XM_017003526.1:c.2305_2318del	XP_016859015.1:p.Ile769ArgfsTer8
XM_017003527.1:c.1636_1649del	XP_016859016.1:p.Ile546ArgfsTer8
XR_001738657.1:n.2582_2595del
NM_001375819.1:c.1636_1649del	NP_001362748.1:p.Ile546ArgfsTer8
NR_135490.2:n.2536_2549del
NM_022552.5:c.2305_2318del MANE Select	NP_072046.2:p.Ile769ArgfsTer8