Canonical Allele Identifier: CA16042899
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 373065
ClinVar RCV Id: RCV000413744
dbSNP Id: rs1057518186
MyVariant Identifiers: chr12:g.49432443del (hg19) chr12:g.49038660del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49038662del , CM000674.2:g.49038662del GRCh38
NC_000012.11:g.49432445del , CM000674.1:g.49432445del GRCh37
NC_000012.10:g.47718712del NCBI36
NG_027827.1:g.21665del

Transcript Alleles

HGVS Amino-acid change
ENST00000683043.1:n.395del
ENST00000683543.2:c.8696del ENSP00000506726.1:p.Gly2899AlafsTer11
ENST00000685166.1:c.8705del ENSP00000509386.1:p.Gly2902AlafsTer11
ENST00000687201.1:c.260del ENSP00000510037.1:p.Gly87AlafsTer11
ENST00000689143.1:c.2299del ENSP00000509839.1:n.2299del
ENST00000692637.1:c.8693del ENSP00000509666.1:p.Gly2898AlafsTer11
ENST00000692841.1:c.260del ENSP00000508711.1:p.Gly87AlafsTer11
ENST00000301067.12:c.8696del MANE Select ENSP00000301067.7:p.Gly2899AlafsTer11
ENST00000301067.11:c.8696del ENSP00000301067.7:p.Gly2899AlafsTer11
ENST00000549799.1:n.338del
NM_003482.3:c.8696del NP_003473.3:p.Gly2899AlafsTer11
XM_005269162.3:c.8696del XP_005269219.1:p.Gly2899AlafsTer11
XM_006719614.2:c.8705del XP_006719677.1:p.Gly2902AlafsTer11
XM_006719616.2:c.8693del XP_006719679.1:p.Gly2898AlafsTer11
XM_011538770.1:c.8705del XP_011537072.1:p.Gly2902AlafsTer11
XM_011538771.1:c.8702del XP_011537073.1:p.Gly2901AlafsTer11
XM_011538772.1:c.8696del XP_011537074.1:p.Gly2899AlafsTer11
XM_011538773.1:c.8693del XP_011537075.1:p.Gly2898AlafsTer11
XM_011538774.1:c.8684del XP_011537076.1:p.Gly2895AlafsTer11
XM_011538775.1:c.8705del XP_011537077.1:p.Gly2902AlafsTer11
XM_011538776.1:c.8612del XP_011537078.1:p.Gly2871AlafsTer11
XR_944740.1:n.11025del
XM_005269162.4:c.8696del XP_005269219.1:p.Gly2899AlafsTer11
XM_006719614.4:c.8705del XP_006719677.1:p.Gly2902AlafsTer11
XM_006719616.3:c.8693del XP_006719679.1:p.Gly2898AlafsTer11
XM_011538770.2:c.8705del XP_011537072.1:p.Gly2902AlafsTer11
XM_011538771.2:c.8702del XP_011537073.1:p.Gly2901AlafsTer11
XM_011538772.2:c.8696del XP_011537074.1:p.Gly2899AlafsTer11
XM_011538773.2:c.8693del XP_011537075.1:p.Gly2898AlafsTer11
XM_011538774.2:c.8684del XP_011537076.1:p.Gly2895AlafsTer11
XM_011538776.2:c.8612del XP_011537078.1:p.Gly2871AlafsTer11
XR_001748874.1:n.10014del
NM_003482.4:c.8696del MANE Select NP_003473.3:p.Gly2899AlafsTer11
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