Canonical Allele Identifier: CA2658168166

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234336-GCTCCATGACCGGCCCAGCAGTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234339_25234361del , CM000664.2:g.25234339_25234361del	GRCh38
NC_000002.11:g.25457208_25457230del , CM000664.1:g.25457208_25457230del	GRCh37
NC_000002.10:g.25310712_25310734del	NCBI36
NG_029465.2:g.113232_113254del , LRG_459:g.113232_113254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.908_930del
ENST00000683393.1:c.1805_1827del	ENSP00000508654.1:n.1805_1827del
ENST00000683760.1:c.1990_2012del	ENSP00000507765.1:p.Leu665AlafsTer25
ENST00000321117.10:c.2659_2681del MANE Select	ENSP00000324375.5:p.Leu888AlafsTer25
ENST00000264709.7:c.2659_2681del	ENSP00000264709.3:p.Leu888AlafsTer25
ENST00000321117.9:c.2659_2681del	ENSP00000324375.5:p.Leu888AlafsTer25
ENST00000380746.8:c.2092_2114del	ENSP00000370122.4:p.Leu699AlafsTer25
ENST00000380756.7:c.*512_*534del	ENSP00000370132.3:n.*512_*534del
ENST00000402667.1:c.1990_2012del	ENSP00000384237.1:p.Leu665AlafsTer25
NM_022552.4:c.2659_2681del , LRG_459t1:c.2659_2681del	NP_072046.2:p.Leu888AlafsTer25
NM_153759.3:c.2092_2114del , LRG_459t2:c.2092_2114del	NP_715640.2:p.Leu699AlafsTer25
NM_175629.2:c.2659_2681del , LRG_459t4:c.2659_2681del	NP_783328.1:p.Leu888AlafsTer25
XM_005264175.3:c.2659_2681del	XP_005264232.1:p.Leu888AlafsTer25
XM_005264177.3:c.1990_2012del	XP_005264234.1:p.Leu665AlafsTer25
XM_006711958.2:c.2215_2237del	XP_006712021.1:p.Leu740AlafsTer25
XM_011532662.1:c.2512_2534del	XP_011530964.1:p.Leu839AlafsTer25
XM_011532663.1:c.2494_2516del	XP_011530965.1:p.Leu833AlafsTer25
XM_011532665.1:c.2203_2225del	XP_011530967.1:p.Leu736AlafsTer25
XM_011532666.1:c.2131_2153del	XP_011530968.1:p.Leu712AlafsTer25
XM_011532667.1:c.1990_2012del	XP_011530969.1:p.Leu665AlafsTer25
NM_001320893.1:c.2203_2225del	NP_001307822.1:p.Leu736AlafsTer25
NR_135490.1:n.3196_3218del
XM_005264175.5:c.2659_2681del	XP_005264232.1:p.Leu888AlafsTer25
XM_005264177.4:c.1990_2012del	XP_005264234.1:p.Leu665AlafsTer25
XM_011532662.2:c.2512_2534del	XP_011530964.1:p.Leu839AlafsTer25
XM_011532663.2:c.2494_2516del	XP_011530965.1:p.Leu833AlafsTer25
XM_011532666.2:c.2131_2153del	XP_011530968.1:p.Leu712AlafsTer25
XM_011532667.3:c.1990_2012del	XP_011530969.1:p.Leu665AlafsTer25
XM_017003526.1:c.2659_2681del	XP_016859015.1:p.Leu888AlafsTer25
XM_017003527.1:c.1990_2012del	XP_016859016.1:p.Leu665AlafsTer25
XR_001738657.1:n.2866_2888del
NM_001375819.1:c.1990_2012del	NP_001362748.1:p.Leu665AlafsTer25
NR_135490.2:n.3089_3111del
NM_022552.5:c.2659_2681del MANE Select	NP_072046.2:p.Leu888AlafsTer25