Canonical Allele Identifier: CA2658168138

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234330-T-TGGCACGCTCCATGACC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234334_25234349dup , CM000664.2:g.25234334_25234349dup	GRCh38
NC_000002.11:g.25457203_25457218dup , CM000664.1:g.25457203_25457218dup	GRCh37
NC_000002.10:g.25310707_25310722dup	NCBI36
NG_029465.2:g.113245_113260dup , LRG_459:g.113245_113260dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.921_936dup
ENST00000683393.1:c.1818_1833dup	ENSP00000508654.1:n.1818_1833dup
ENST00000683760.1:c.2003_2018dup	ENSP00000507765.1:p.Ile675MetfsTer28
ENST00000321117.10:c.2672_2687dup MANE Select	ENSP00000324375.5:p.Ile898MetfsTer28
ENST00000264709.7:c.2672_2687dup	ENSP00000264709.3:p.Ile898MetfsTer28
ENST00000321117.9:c.2672_2687dup	ENSP00000324375.5:p.Ile898MetfsTer28
ENST00000380746.8:c.2105_2120dup	ENSP00000370122.4:p.Ile709MetfsTer28
ENST00000380756.7:c.*525_*540dup	ENSP00000370132.3:n.*525_*540dup
ENST00000402667.1:c.2003_2018dup	ENSP00000384237.1:p.Ile675MetfsTer28
NM_022552.4:c.2672_2687dup , LRG_459t1:c.2672_2687dup	NP_072046.2:p.Ile898MetfsTer28
NM_153759.3:c.2105_2120dup , LRG_459t2:c.2105_2120dup	NP_715640.2:p.Ile709MetfsTer28
NM_175629.2:c.2672_2687dup , LRG_459t4:c.2672_2687dup	NP_783328.1:p.Ile898MetfsTer28
XM_005264175.3:c.2672_2687dup	XP_005264232.1:p.Ile898MetfsTer28
XM_005264177.3:c.2003_2018dup	XP_005264234.1:p.Ile675MetfsTer28
XM_006711958.2:c.2228_2243dup	XP_006712021.1:p.Ile750MetfsTer28
XM_011532662.1:c.2525_2540dup	XP_011530964.1:p.Ile849MetfsTer28
XM_011532663.1:c.2507_2522dup	XP_011530965.1:p.Ile843MetfsTer28
XM_011532665.1:c.2216_2231dup	XP_011530967.1:p.Ile746MetfsTer28
XM_011532666.1:c.2144_2159dup	XP_011530968.1:p.Ile722MetfsTer28
XM_011532667.1:c.2003_2018dup	XP_011530969.1:p.Ile675MetfsTer28
NM_001320893.1:c.2216_2231dup	NP_001307822.1:p.Ile746MetfsTer28
NR_135490.1:n.3209_3224dup
XM_005264175.5:c.2672_2687dup	XP_005264232.1:p.Ile898MetfsTer28
XM_005264177.4:c.2003_2018dup	XP_005264234.1:p.Ile675MetfsTer28
XM_011532662.2:c.2525_2540dup	XP_011530964.1:p.Ile849MetfsTer28
XM_011532663.2:c.2507_2522dup	XP_011530965.1:p.Ile843MetfsTer28
XM_011532666.2:c.2144_2159dup	XP_011530968.1:p.Ile722MetfsTer28
XM_011532667.3:c.2003_2018dup	XP_011530969.1:p.Ile675MetfsTer28
XM_017003526.1:c.2672_2687dup	XP_016859015.1:p.Ile898MetfsTer28
XM_017003527.1:c.2003_2018dup	XP_016859016.1:p.Ile675MetfsTer28
XR_001738657.1:n.2879_2894dup
NM_001375819.1:c.2003_2018dup	NP_001362748.1:p.Ile675MetfsTer28
NR_135490.2:n.3102_3117dup
NM_022552.5:c.2672_2687dup MANE Select	NP_072046.2:p.Ile898MetfsTer28