Canonical Allele Identifier: CA2658168300

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234360-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234360_25234361insG , CM000664.2:g.25234360_25234361insG	GRCh38
NC_000002.11:g.25457229_25457230insG , CM000664.1:g.25457229_25457230insG	GRCh37
NC_000002.10:g.25310733_25310734insG	NCBI36
NG_029465.2:g.113230_113231insC , LRG_459:g.113230_113231insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.906_907insC
ENST00000683393.1:c.1803_1804insC	ENSP00000508654.1:n.1803_1804insC
ENST00000683760.1:c.1988_1989insC	ENSP00000507765.1:p.Gln663HisfsTer?
ENST00000321117.10:c.2657_2658insC MANE Select	ENSP00000324375.5:p.Gln886HisfsTer?
ENST00000264709.7:c.2657_2658insC	ENSP00000264709.3:p.Gln886HisfsTer?
ENST00000321117.9:c.2657_2658insC	ENSP00000324375.5:p.Gln886HisfsTer?
ENST00000380746.8:c.2090_2091insC	ENSP00000370122.4:p.Gln697HisfsTer?
ENST00000380756.7:c.*510_*511insC	ENSP00000370132.3:n.*510_*511insC
ENST00000402667.1:c.1988_1989insC	ENSP00000384237.1:p.Gln663HisfsTer?
NM_022552.4:c.2657_2658insC , LRG_459t1:c.2657_2658insC	NP_072046.2:p.Gln886HisfsTer?
NM_153759.3:c.2090_2091insC , LRG_459t2:c.2090_2091insC	NP_715640.2:p.Gln697HisfsTer?
NM_175629.2:c.2657_2658insC , LRG_459t4:c.2657_2658insC	NP_783328.1:p.Gln886HisfsTer?
XM_005264175.3:c.2657_2658insC	XP_005264232.1:p.Gln886HisfsTer?
XM_005264177.3:c.1988_1989insC	XP_005264234.1:p.Gln663HisfsTer?
XM_006711958.2:c.2213_2214insC	XP_006712021.1:p.Gln738HisfsTer?
XM_011532662.1:c.2510_2511insC	XP_011530964.1:p.Gln837HisfsTer?
XM_011532663.1:c.2492_2493insC	XP_011530965.1:p.Gln831HisfsTer?
XM_011532665.1:c.2201_2202insC	XP_011530967.1:p.Gln734HisfsTer?
XM_011532666.1:c.2129_2130insC	XP_011530968.1:p.Gln710HisfsTer?
XM_011532667.1:c.1988_1989insC	XP_011530969.1:p.Gln663HisfsTer?
NM_001320893.1:c.2201_2202insC	NP_001307822.1:p.Gln734HisfsTer?
NR_135490.1:n.3194_3195insC
XM_005264175.5:c.2657_2658insC	XP_005264232.1:p.Gln886HisfsTer?
XM_005264177.4:c.1988_1989insC	XP_005264234.1:p.Gln663HisfsTer?
XM_011532662.2:c.2510_2511insC	XP_011530964.1:p.Gln837HisfsTer?
XM_011532663.2:c.2492_2493insC	XP_011530965.1:p.Gln831HisfsTer?
XM_011532666.2:c.2129_2130insC	XP_011530968.1:p.Gln710HisfsTer?
XM_011532667.3:c.1988_1989insC	XP_011530969.1:p.Gln663HisfsTer?
XM_017003526.1:c.2657_2658insC	XP_016859015.1:p.Gln886HisfsTer?
XM_017003527.1:c.1988_1989insC	XP_016859016.1:p.Gln663HisfsTer?
XR_001738657.1:n.2864_2865insC
NM_001375819.1:c.1988_1989insC	NP_001362748.1:p.Gln663HisfsTer?
NR_135490.2:n.3087_3088insC
NM_022552.5:c.2657_2658insC MANE Select	NP_072046.2:p.Gln886HisfsTer?