Canonical Allele Identifier: CA271572
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 158717
ClinVar RCV Id: RCV000146154 RCV001054015
dbSNP Id: rs587783683
gnomAD v4: 12-49033318-TG-T
MyVariant Identifiers: chr12:g.49427102del (hg19) chr12:g.49033319del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49033322del , CM000674.2:g.49033322del GRCh38
NC_000012.11:g.49427105del , CM000674.1:g.49427105del GRCh37
NC_000012.10:g.47713372del NCBI36
NG_027827.1:g.27006del

Transcript Alleles

HGVS Amino-acid change
ENST00000683543.2:c.11386del ENSP00000506726.1:p.Gln3796ArgfsTer?
ENST00000685166.1:c.11395del ENSP00000509386.1:p.Gln3799ArgfsTer?
ENST00000685554.1:c.946del ENSP00000508640.1:p.Gln316ArgfsTer?
ENST00000687201.1:c.2965del ENSP00000510037.1:p.Gln989ArgfsTer?
ENST00000692637.1:c.11383del ENSP00000509666.1:p.Gln3795ArgfsTer?
ENST00000692841.1:c.2865del ENSP00000508711.1:n.2865del
ENST00000301067.12:c.11386del MANE Select ENSP00000301067.7:p.Gln3796ArgfsTer?
ENST00000301067.11:c.11386del ENSP00000301067.7:p.Gln3796ArgfsTer?
NM_003482.3:c.11386del NP_003473.3:p.Gln3796ArgfsTer?
XM_005269162.3:c.11386del XP_005269219.1:p.Gln3796ArgfsTer?
XM_006719614.2:c.11395del XP_006719677.1:p.Gln3799ArgfsTer?
XM_006719616.2:c.11383del XP_006719679.1:p.Gln3795ArgfsTer?
XM_011538770.1:c.11395del XP_011537072.1:p.Gln3799ArgfsTer?
XM_011538771.1:c.11392del XP_011537073.1:p.Gln3798ArgfsTer?
XM_011538772.1:c.11386del XP_011537074.1:p.Gln3796ArgfsTer?
XM_011538773.1:c.11383del XP_011537075.1:p.Gln3795ArgfsTer?
XM_011538774.1:c.11374del XP_011537076.1:p.Gln3792ArgfsTer?
XM_011538775.1:c.11395del XP_011537077.1:p.Gln3799ArgfsTer?
XM_011538776.1:c.11302del XP_011537078.1:p.Gln3768ArgfsTer?
XR_944740.1:n.13715del
XM_005269162.4:c.11386del XP_005269219.1:p.Gln3796ArgfsTer?
XM_006719614.4:c.11395del XP_006719677.1:p.Gln3799ArgfsTer?
XM_006719616.3:c.11383del XP_006719679.1:p.Gln3795ArgfsTer?
XM_011538770.2:c.11395del XP_011537072.1:p.Gln3799ArgfsTer?
XM_011538771.2:c.11392del XP_011537073.1:p.Gln3798ArgfsTer?
XM_011538772.2:c.11386del XP_011537074.1:p.Gln3796ArgfsTer?
XM_011538773.2:c.11383del XP_011537075.1:p.Gln3795ArgfsTer?
XM_011538774.2:c.11374del XP_011537076.1:p.Gln3792ArgfsTer?
XM_011538776.2:c.11302del XP_011537078.1:p.Gln3768ArgfsTer?
XR_001748874.1:n.12704del
NM_003482.4:c.11386del MANE Select NP_003473.3:p.Gln3796ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'