Canonical Allele Identifier: CA2576693894

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240317-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240318del , CM000664.2:g.25240318del	GRCh38
NC_000002.11:g.25463187del , CM000664.1:g.25463187del	GRCh37
NC_000002.10:g.25316691del	NCBI36
NG_029465.2:g.107273del , LRG_459:g.107273del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.625del
ENST00000683393.1:c.1452del	ENSP00000508654.1:n.1452del
ENST00000683760.1:c.1637del	ENSP00000507765.1:p.Ile546ThrfsTer10
ENST00000321117.10:c.2306del MANE Select	ENSP00000324375.5:p.Ile769ThrfsTer10
ENST00000264709.7:c.2306del	ENSP00000264709.3:p.Ile769ThrfsTer10
ENST00000321117.9:c.2306del	ENSP00000324375.5:p.Ile769ThrfsTer10
ENST00000380746.8:c.1739del	ENSP00000370122.4:p.Ile580ThrfsTer10
ENST00000380756.7:c.2306del	ENSP00000370132.3:p.Ile769ThrfsTer?
ENST00000402667.1:c.1637del	ENSP00000384237.1:p.Ile546ThrfsTer10
ENST00000461228.1:n.525del
ENST00000466601.5:n.678del
ENST00000474887.5:n.625del
ENST00000482935.5:n.306del
ENST00000491288.5:n.310+322del
NM_022552.4:c.2306del , LRG_459t1:c.2306del	NP_072046.2:p.Ile769ThrfsTer10
NM_153759.3:c.1739del , LRG_459t2:c.1739del	NP_715640.2:p.Ile580ThrfsTer10
NM_175629.2:c.2306del , LRG_459t4:c.2306del	NP_783328.1:p.Ile769ThrfsTer10
XM_005264175.3:c.2306del	XP_005264232.1:p.Ile769ThrfsTer10
XM_005264177.3:c.1637del	XP_005264234.1:p.Ile546ThrfsTer10
XM_006711957.2:c.2306del	XP_006712020.1:p.Ile769ThrfsTer10
XM_006711958.2:c.1862del	XP_006712021.1:p.Ile621ThrfsTer10
XM_011532662.1:c.2159del	XP_011530964.1:p.Ile720ThrfsTer10
XM_011532663.1:c.2141del	XP_011530965.1:p.Ile714ThrfsTer10
XM_011532664.1:c.2306del	XP_011530966.1:p.Ile769ThrfsTer?
XM_011532665.1:c.1850del	XP_011530967.1:p.Ile617ThrfsTer10
XM_011532666.1:c.1778del	XP_011530968.1:p.Ile593ThrfsTer10
XM_011532667.1:c.1637del	XP_011530969.1:p.Ile546ThrfsTer10
XM_011532668.1:c.2306del	XP_011530970.1:p.Ile769ThrfsTer?
NM_001320893.1:c.1850del	NP_001307822.1:p.Ile617ThrfsTer10
NR_135490.1:n.2644del
XM_005264175.5:c.2306del	XP_005264232.1:p.Ile769ThrfsTer10
XM_005264177.4:c.1637del	XP_005264234.1:p.Ile546ThrfsTer10
XM_011532662.2:c.2159del	XP_011530964.1:p.Ile720ThrfsTer10
XM_011532663.2:c.2141del	XP_011530965.1:p.Ile714ThrfsTer10
XM_011532664.2:c.2306del	XP_011530966.1:p.Ile769ThrfsTer?
XM_011532666.2:c.1778del	XP_011530968.1:p.Ile593ThrfsTer10
XM_011532667.3:c.1637del	XP_011530969.1:p.Ile546ThrfsTer10
XM_017003526.1:c.2306del	XP_016859015.1:p.Ile769ThrfsTer10
XM_017003527.1:c.1637del	XP_016859016.1:p.Ile546ThrfsTer10
XR_001738657.1:n.2583del
NM_001375819.1:c.1637del	NP_001362748.1:p.Ile546ThrfsTer10
NR_135490.2:n.2537del
NM_022552.5:c.2306del MANE Select	NP_072046.2:p.Ile769ThrfsTer10