Canonical Allele Identifier: CA275282
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 197588
ClinVar RCV Id: RCV000178653
dbSNP Id: rs794727689
MyVariant Identifiers: chr12:g.49420577del (hg19) chr12:g.49026794del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026796del , CM000674.2:g.49026796del GRCh38
NC_000012.11:g.49420579del , CM000674.1:g.49420579del GRCh37
NC_000012.10:g.47706846del NCBI36
NG_027827.1:g.33531del

Transcript Alleles

HGVS Amino-acid change
ENST00000683543.2:c.15172del ENSP00000506726.1:p.Val5058CysfsTer20
ENST00000685024.1:c.297del
ENST00000685166.1:c.15181del ENSP00000509386.1:p.Val5061CysfsTer20
ENST00000688411.1:c.261+1009del ENSP00000510146.1:n.261+1009del
ENST00000691463.1:c.558del ENSP00000510624.1:n.558del
ENST00000692637.1:c.15169del ENSP00000509666.1:p.Val5057CysfsTer20
ENST00000301067.12:c.15172del MANE Select ENSP00000301067.7:p.Val5058CysfsTer20
ENST00000301067.11:c.15172del ENSP00000301067.7:p.Val5058CysfsTer20
NM_003482.3:c.15172del NP_003473.3:p.Val5058CysfsTer20
XM_005269162.3:c.15172del XP_005269219.1:p.Val5058CysfsTer20
XM_006719614.2:c.15181del XP_006719677.1:p.Val5061CysfsTer20
XM_006719616.2:c.15169del XP_006719679.1:p.Val5057CysfsTer20
XM_011538770.1:c.15181del XP_011537072.1:p.Val5061CysfsTer20
XM_011538771.1:c.15178del XP_011537073.1:p.Val5060CysfsTer20
XM_011538772.1:c.15172del XP_011537074.1:p.Val5058CysfsTer20
XM_011538773.1:c.15169del XP_011537075.1:p.Val5057CysfsTer20
XM_011538774.1:c.15160del XP_011537076.1:p.Val5054CysfsTer20
XM_011538775.1:c.15115del XP_011537077.1:p.Val5039CysfsTer20
XM_011538776.1:c.15088del XP_011537078.1:p.Val5030CysfsTer20
XR_944740.1:n.16972+1009del
XM_005269162.4:c.15172del XP_005269219.1:p.Val5058CysfsTer20
XM_006719614.4:c.15181del XP_006719677.1:p.Val5061CysfsTer20
XM_006719616.3:c.15169del XP_006719679.1:p.Val5057CysfsTer20
XM_011538770.2:c.15181del XP_011537072.1:p.Val5061CysfsTer20
XM_011538771.2:c.15178del XP_011537073.1:p.Val5060CysfsTer20
XM_011538772.2:c.15172del XP_011537074.1:p.Val5058CysfsTer20
XM_011538773.2:c.15169del XP_011537075.1:p.Val5057CysfsTer20
XM_011538774.2:c.15160del XP_011537076.1:p.Val5054CysfsTer20
XM_011538776.2:c.15088del XP_011537078.1:p.Val5030CysfsTer20
XR_001748874.1:n.15961+1009del
NM_003482.4:c.15172del MANE Select NP_003473.3:p.Val5058CysfsTer20
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