Canonical Allele Identifier: CA2658168363

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234370-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234370_25234371insC , CM000664.2:g.25234370_25234371insC	GRCh38
NC_000002.11:g.25457239_25457240insC , CM000664.1:g.25457239_25457240insC	GRCh37
NC_000002.10:g.25310743_25310744insC	NCBI36
NG_029465.2:g.113220_113221insG , LRG_459:g.113220_113221insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.896_897insG
ENST00000683393.1:c.1793_1794insG	ENSP00000508654.1:n.1793_1794insG
ENST00000683760.1:c.1978_1979insG	ENSP00000507765.1:p.Leu660CysfsTer?
ENST00000321117.10:c.2647_2648insG MANE Select	ENSP00000324375.5:p.Leu883CysfsTer?
ENST00000264709.7:c.2647_2648insG	ENSP00000264709.3:p.Leu883CysfsTer?
ENST00000321117.9:c.2647_2648insG	ENSP00000324375.5:p.Leu883CysfsTer?
ENST00000380746.8:c.2080_2081insG	ENSP00000370122.4:p.Leu694CysfsTer?
ENST00000380756.7:c.*500_*501insG	ENSP00000370132.3:n.*500_*501insG
ENST00000402667.1:c.1978_1979insG	ENSP00000384237.1:p.Leu660CysfsTer?
NM_022552.4:c.2647_2648insG , LRG_459t1:c.2647_2648insG	NP_072046.2:p.Leu883CysfsTer?
NM_153759.3:c.2080_2081insG , LRG_459t2:c.2080_2081insG	NP_715640.2:p.Leu694CysfsTer?
NM_175629.2:c.2647_2648insG , LRG_459t4:c.2647_2648insG	NP_783328.1:p.Leu883CysfsTer?
XM_005264175.3:c.2647_2648insG	XP_005264232.1:p.Leu883CysfsTer?
XM_005264177.3:c.1978_1979insG	XP_005264234.1:p.Leu660CysfsTer?
XM_006711958.2:c.2203_2204insG	XP_006712021.1:p.Leu735CysfsTer?
XM_011532662.1:c.2500_2501insG	XP_011530964.1:p.Leu834CysfsTer?
XM_011532663.1:c.2482_2483insG	XP_011530965.1:p.Leu828CysfsTer?
XM_011532665.1:c.2191_2192insG	XP_011530967.1:p.Leu731CysfsTer?
XM_011532666.1:c.2119_2120insG	XP_011530968.1:p.Leu707CysfsTer?
XM_011532667.1:c.1978_1979insG	XP_011530969.1:p.Leu660CysfsTer?
NM_001320893.1:c.2191_2192insG	NP_001307822.1:p.Leu731CysfsTer?
NR_135490.1:n.3184_3185insG
XM_005264175.5:c.2647_2648insG	XP_005264232.1:p.Leu883CysfsTer?
XM_005264177.4:c.1978_1979insG	XP_005264234.1:p.Leu660CysfsTer?
XM_011532662.2:c.2500_2501insG	XP_011530964.1:p.Leu834CysfsTer?
XM_011532663.2:c.2482_2483insG	XP_011530965.1:p.Leu828CysfsTer?
XM_011532666.2:c.2119_2120insG	XP_011530968.1:p.Leu707CysfsTer?
XM_011532667.3:c.1978_1979insG	XP_011530969.1:p.Leu660CysfsTer?
XM_017003526.1:c.2647_2648insG	XP_016859015.1:p.Leu883CysfsTer?
XM_017003527.1:c.1978_1979insG	XP_016859016.1:p.Leu660CysfsTer?
XR_001738657.1:n.2854_2855insG
NM_001375819.1:c.1978_1979insG	NP_001362748.1:p.Leu660CysfsTer?
NR_135490.2:n.3077_3078insG
NM_022552.5:c.2647_2648insG MANE Select	NP_072046.2:p.Leu883CysfsTer?