Canonical Allele Identifier: CA531369118

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1271207314
• gnomAD v2: 2-25463246-G-GCGCGCCC
• gnomAD v4: 2-25240377-G-GCGCGCCC
• MyVariant Identifiers: chr2:g.25463246_25463247insCGCGCCC (hg19) ; chr2:g.25240377_25240378insCGCGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240379_25240380insCGCCCCG , CM000664.2:g.25240379_25240380insCGCCCCG	GRCh38
NC_000002.11:g.25463248_25463249insCGCCCCG , CM000664.1:g.25463248_25463249insCGCCCCG	GRCh37
NC_000002.10:g.25316752_25316753insCGCCCCG	NCBI36
NG_029465.2:g.107213_107214insGGGCGCG , LRG_459:g.107213_107214insGGGCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.565_566insGGGCGCG
ENST00000683393.1:c.1392_1393insGGGCGCG	ENSP00000508654.1:n.1392_1393insGGGCGCG
ENST00000683760.1:c.1577_1578insGGGCGCG	ENSP00000507765.1:p.Pro527GlyfsTer9
ENST00000321117.10:c.2246_2247insGGGCGCG MANE Select	ENSP00000324375.5:p.Pro750GlyfsTer9
ENST00000264709.7:c.2246_2247insGGGCGCG	ENSP00000264709.3:p.Pro750GlyfsTer9
ENST00000321117.9:c.2246_2247insGGGCGCG	ENSP00000324375.5:p.Pro750GlyfsTer9
ENST00000380746.8:c.1679_1680insGGGCGCG	ENSP00000370122.4:p.Pro561GlyfsTer9
ENST00000380756.7:c.2246_2247insGGGCGCG	ENSP00000370132.3:p.Pro750GlyfsTer9
ENST00000402667.1:c.1577_1578insGGGCGCG	ENSP00000384237.1:p.Pro527GlyfsTer9
ENST00000461228.1:n.465_466insGGGCGCG
ENST00000466601.5:n.618_619insGGGCGCG
ENST00000474887.5:n.565_566insGGGCGCG
ENST00000482935.5:n.246_247insGGGCGCG
ENST00000491288.5:n.310+262_310+263insGGGCGCG
NM_022552.4:c.2246_2247insGGGCGCG , LRG_459t1:c.2246_2247insGGGCGCG	NP_072046.2:p.Pro750GlyfsTer9
NM_153759.3:c.1679_1680insGGGCGCG , LRG_459t2:c.1679_1680insGGGCGCG	NP_715640.2:p.Pro561GlyfsTer9
NM_175629.2:c.2246_2247insGGGCGCG , LRG_459t4:c.2246_2247insGGGCGCG	NP_783328.1:p.Pro750GlyfsTer9
XM_005264175.3:c.2246_2247insGGGCGCG	XP_005264232.1:p.Pro750GlyfsTer9
XM_005264177.3:c.1577_1578insGGGCGCG	XP_005264234.1:p.Pro527GlyfsTer9
XM_006711957.2:c.2246_2247insGGGCGCG	XP_006712020.1:p.Pro750GlyfsTer9
XM_006711958.2:c.1802_1803insGGGCGCG	XP_006712021.1:p.Pro602GlyfsTer9
XM_011532662.1:c.2099_2100insGGGCGCG	XP_011530964.1:p.Pro701GlyfsTer9
XM_011532663.1:c.2081_2082insGGGCGCG	XP_011530965.1:p.Pro695GlyfsTer9
XM_011532664.1:c.2246_2247insGGGCGCG	XP_011530966.1:p.Pro750GlyfsTer9
XM_011532665.1:c.1790_1791insGGGCGCG	XP_011530967.1:p.Pro598GlyfsTer9
XM_011532666.1:c.1718_1719insGGGCGCG	XP_011530968.1:p.Pro574GlyfsTer9
XM_011532667.1:c.1577_1578insGGGCGCG	XP_011530969.1:p.Pro527GlyfsTer9
XM_011532668.1:c.2246_2247insGGGCGCG	XP_011530970.1:p.Pro750GlyfsTer9
NM_001320893.1:c.1790_1791insGGGCGCG	NP_001307822.1:p.Pro598GlyfsTer9
NR_135490.1:n.2584_2585insGGGCGCG
XM_005264175.5:c.2246_2247insGGGCGCG	XP_005264232.1:p.Pro750GlyfsTer9
XM_005264177.4:c.1577_1578insGGGCGCG	XP_005264234.1:p.Pro527GlyfsTer9
XM_011532662.2:c.2099_2100insGGGCGCG	XP_011530964.1:p.Pro701GlyfsTer9
XM_011532663.2:c.2081_2082insGGGCGCG	XP_011530965.1:p.Pro695GlyfsTer9
XM_011532664.2:c.2246_2247insGGGCGCG	XP_011530966.1:p.Pro750GlyfsTer9
XM_011532666.2:c.1718_1719insGGGCGCG	XP_011530968.1:p.Pro574GlyfsTer9
XM_011532667.3:c.1577_1578insGGGCGCG	XP_011530969.1:p.Pro527GlyfsTer9
XM_017003526.1:c.2246_2247insGGGCGCG	XP_016859015.1:p.Pro750GlyfsTer9
XM_017003527.1:c.1577_1578insGGGCGCG	XP_016859016.1:p.Pro527GlyfsTer9
XR_001738657.1:n.2523_2524insGGGCGCG
NM_001375819.1:c.1577_1578insGGGCGCG	NP_001362748.1:p.Pro527GlyfsTer9
NR_135490.2:n.2477_2478insGGGCGCG
NM_022552.5:c.2246_2247insGGGCGCG MANE Select	NP_072046.2:p.Pro750GlyfsTer9