Canonical Allele Identifier: CA2658168435

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234389-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234389_25234390insAT , CM000664.2:g.25234389_25234390insAT	GRCh38
NC_000002.11:g.25457258_25457259insAT , CM000664.1:g.25457258_25457259insAT	GRCh37
NC_000002.10:g.25310762_25310763insAT	NCBI36
NG_029465.2:g.113201_113202insAT , LRG_459:g.113201_113202insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.877_878insAT
ENST00000683393.1:c.1774_1775insAT	ENSP00000508654.1:n.1774_1775insAT
ENST00000683760.1:c.1959_1960insAT	ENSP00000507765.1:p.Val654MetfsTer5
ENST00000321117.10:c.2628_2629insAT MANE Select	ENSP00000324375.5:p.Val877MetfsTer5
ENST00000264709.7:c.2628_2629insAT	ENSP00000264709.3:p.Val877MetfsTer5
ENST00000321117.9:c.2628_2629insAT	ENSP00000324375.5:p.Val877MetfsTer5
ENST00000380746.8:c.2061_2062insAT	ENSP00000370122.4:p.Val688MetfsTer5
ENST00000380756.7:c.*481_*482insAT	ENSP00000370132.3:n.*481_*482insAT
ENST00000402667.1:c.1959_1960insAT	ENSP00000384237.1:p.Val654MetfsTer5
NM_022552.4:c.2628_2629insAT , LRG_459t1:c.2628_2629insAT	NP_072046.2:p.Val877MetfsTer5
NM_153759.3:c.2061_2062insAT , LRG_459t2:c.2061_2062insAT	NP_715640.2:p.Val688MetfsTer5
NM_175629.2:c.2628_2629insAT , LRG_459t4:c.2628_2629insAT	NP_783328.1:p.Val877MetfsTer5
XM_005264175.3:c.2628_2629insAT	XP_005264232.1:p.Val877MetfsTer5
XM_005264177.3:c.1959_1960insAT	XP_005264234.1:p.Val654MetfsTer5
XM_006711958.2:c.2184_2185insAT	XP_006712021.1:p.Val729MetfsTer5
XM_011532662.1:c.2481_2482insAT	XP_011530964.1:p.Val828MetfsTer5
XM_011532663.1:c.2463_2464insAT	XP_011530965.1:p.Val822MetfsTer5
XM_011532665.1:c.2172_2173insAT	XP_011530967.1:p.Val725MetfsTer5
XM_011532666.1:c.2100_2101insAT	XP_011530968.1:p.Val701MetfsTer5
XM_011532667.1:c.1959_1960insAT	XP_011530969.1:p.Val654MetfsTer5
NM_001320893.1:c.2172_2173insAT	NP_001307822.1:p.Val725MetfsTer5
NR_135490.1:n.3165_3166insAT
XM_005264175.5:c.2628_2629insAT	XP_005264232.1:p.Val877MetfsTer5
XM_005264177.4:c.1959_1960insAT	XP_005264234.1:p.Val654MetfsTer5
XM_011532662.2:c.2481_2482insAT	XP_011530964.1:p.Val828MetfsTer5
XM_011532663.2:c.2463_2464insAT	XP_011530965.1:p.Val822MetfsTer5
XM_011532666.2:c.2100_2101insAT	XP_011530968.1:p.Val701MetfsTer5
XM_011532667.3:c.1959_1960insAT	XP_011530969.1:p.Val654MetfsTer5
XM_017003526.1:c.2628_2629insAT	XP_016859015.1:p.Val877MetfsTer5
XM_017003527.1:c.1959_1960insAT	XP_016859016.1:p.Val654MetfsTer5
XR_001738657.1:n.2835_2836insAT
NM_001375819.1:c.1959_1960insAT	NP_001362748.1:p.Val654MetfsTer5
NR_135490.2:n.3058_3059insAT
NM_022552.5:c.2628_2629insAT MANE Select	NP_072046.2:p.Val877MetfsTer5