Canonical Allele Identifier: CA2658168437

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234389-C-CGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234392_25234395dup , CM000664.2:g.25234392_25234395dup	GRCh38
NC_000002.11:g.25457261_25457264dup , CM000664.1:g.25457261_25457264dup	GRCh37
NC_000002.10:g.25310765_25310768dup	NCBI36
NG_029465.2:g.113198_113201dup , LRG_459:g.113198_113201dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.874_877dup
ENST00000683393.1:c.1771_1774dup	ENSP00000508654.1:n.1771_1774dup
ENST00000683760.1:c.1956_1959dup	ENSP00000507765.1:p.Val654Ter
ENST00000321117.10:c.2625_2628dup MANE Select	ENSP00000324375.5:p.Val877Ter
ENST00000264709.7:c.2625_2628dup	ENSP00000264709.3:p.Val877Ter
ENST00000321117.9:c.2625_2628dup	ENSP00000324375.5:p.Val877Ter
ENST00000380746.8:c.2058_2061dup	ENSP00000370122.4:p.Val688Ter
ENST00000380756.7:c.*478_*481dup	ENSP00000370132.3:n.*478_*481dup
ENST00000402667.1:c.1956_1959dup	ENSP00000384237.1:p.Val654Ter
NM_022552.4:c.2625_2628dup , LRG_459t1:c.2625_2628dup	NP_072046.2:p.Val877Ter
NM_153759.3:c.2058_2061dup , LRG_459t2:c.2058_2061dup	NP_715640.2:p.Val688Ter
NM_175629.2:c.2625_2628dup , LRG_459t4:c.2625_2628dup	NP_783328.1:p.Val877Ter
XM_005264175.3:c.2625_2628dup	XP_005264232.1:p.Val877Ter
XM_005264177.3:c.1956_1959dup	XP_005264234.1:p.Val654Ter
XM_006711958.2:c.2181_2184dup	XP_006712021.1:p.Val729Ter
XM_011532662.1:c.2478_2481dup	XP_011530964.1:p.Val828Ter
XM_011532663.1:c.2460_2463dup	XP_011530965.1:p.Val822Ter
XM_011532665.1:c.2169_2172dup	XP_011530967.1:p.Val725Ter
XM_011532666.1:c.2097_2100dup	XP_011530968.1:p.Val701Ter
XM_011532667.1:c.1956_1959dup	XP_011530969.1:p.Val654Ter
NM_001320893.1:c.2169_2172dup	NP_001307822.1:p.Val725Ter
NR_135490.1:n.3162_3165dup
XM_005264175.5:c.2625_2628dup	XP_005264232.1:p.Val877Ter
XM_005264177.4:c.1956_1959dup	XP_005264234.1:p.Val654Ter
XM_011532662.2:c.2478_2481dup	XP_011530964.1:p.Val828Ter
XM_011532663.2:c.2460_2463dup	XP_011530965.1:p.Val822Ter
XM_011532666.2:c.2097_2100dup	XP_011530968.1:p.Val701Ter
XM_011532667.3:c.1956_1959dup	XP_011530969.1:p.Val654Ter
XM_017003526.1:c.2625_2628dup	XP_016859015.1:p.Val877Ter
XM_017003527.1:c.1956_1959dup	XP_016859016.1:p.Val654Ter
XR_001738657.1:n.2832_2835dup
NM_001375819.1:c.1956_1959dup	NP_001362748.1:p.Val654Ter
NR_135490.2:n.3055_3058dup
NM_022552.5:c.2625_2628dup MANE Select	NP_072046.2:p.Val877Ter