Canonical Allele Identifier: CA16619537
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 424198
ClinVar RCV Id: RCV000482913
dbSNP Id: rs1064796855

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49038258del , CM000674.2:g.49038258del GRCh38
NC_000012.11:g.49432041del , CM000674.1:g.49432041del GRCh37
NC_000012.10:g.47718308del NCBI36
NG_027827.1:g.22068del

Transcript Alleles

HGVS Amino-acid change
ENST00000683043.1:n.798del
ENST00000683543.2:c.9099del ENSP00000506726.1:p.Asn3034MetfsTer?
ENST00000685166.1:c.9108del ENSP00000509386.1:p.Asn3037MetfsTer?
ENST00000687201.1:c.663del ENSP00000510037.1:p.Asn222MetfsTer?
ENST00000689143.1:c.2702del ENSP00000509839.1:n.2702del
ENST00000692637.1:c.9096del ENSP00000509666.1:p.Asn3033MetfsTer?
ENST00000692841.1:c.663del ENSP00000508711.1:p.Asn222MetfsTer?
ENST00000301067.12:c.9099del MANE Select ENSP00000301067.7:p.Asn3034MetfsTer?
ENST00000301067.11:c.9099del ENSP00000301067.7:p.Asn3034MetfsTer?
NM_003482.3:c.9099del NP_003473.3:p.Asn3034MetfsTer?
XM_005269162.3:c.9099del XP_005269219.1:p.Asn3034MetfsTer?
XM_006719614.2:c.9108del XP_006719677.1:p.Asn3037MetfsTer?
XM_006719616.2:c.9096del XP_006719679.1:p.Asn3033MetfsTer?
XM_011538770.1:c.9108del XP_011537072.1:p.Asn3037MetfsTer?
XM_011538771.1:c.9105del XP_011537073.1:p.Asn3036MetfsTer?
XM_011538772.1:c.9099del XP_011537074.1:p.Asn3034MetfsTer?
XM_011538773.1:c.9096del XP_011537075.1:p.Asn3033MetfsTer?
XM_011538774.1:c.9087del XP_011537076.1:p.Asn3030MetfsTer?
XM_011538775.1:c.9108del XP_011537077.1:p.Asn3037MetfsTer?
XM_011538776.1:c.9015del XP_011537078.1:p.Asn3006MetfsTer?
XR_944740.1:n.11428del
XM_005269162.4:c.9099del XP_005269219.1:p.Asn3034MetfsTer?
XM_006719614.4:c.9108del XP_006719677.1:p.Asn3037MetfsTer?
XM_006719616.3:c.9096del XP_006719679.1:p.Asn3033MetfsTer?
XM_011538770.2:c.9108del XP_011537072.1:p.Asn3037MetfsTer?
XM_011538771.2:c.9105del XP_011537073.1:p.Asn3036MetfsTer?
XM_011538772.2:c.9099del XP_011537074.1:p.Asn3034MetfsTer?
XM_011538773.2:c.9096del XP_011537075.1:p.Asn3033MetfsTer?
XM_011538774.2:c.9087del XP_011537076.1:p.Asn3030MetfsTer?
XM_011538776.2:c.9015del XP_011537078.1:p.Asn3006MetfsTer?
XR_001748874.1:n.10417del
NM_003482.4:c.9099del MANE Select NP_003473.3:p.Asn3034MetfsTer?