Canonical Allele Identifier: CA645579714
Community Standard Title: NM_003482.4(KMT2D):c.6594del (p.Tyr2199IlefsTer?)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49041181del , CM000674.2:g.49041181del GRCh38
NC_000012.11:g.49434964del , CM000674.1:g.49434964del GRCh37
NC_000012.10:g.47721231del NCBI36
NG_027827.1:g.19149del

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.6594del MANE Select NP_003473.3:p.Tyr2199IlefsTer?
ENST00000301067.12:c.6594del MANE Select ENSP00000301067.7:p.Tyr2199IlefsTer?
NM_003482.3:c.6594del NP_003473.3:p.Tyr2199IlefsTer?
ENST00000301067.11:c.6594del ENSP00000301067.7:p.Tyr2199IlefsTer?
ENST00000683543.2:c.6594del ENSP00000506726.1:p.Tyr2199IlefsTer?
ENST00000685166.1:c.6603del ENSP00000509386.1:p.Tyr2202IlefsTer?
ENST00000689060.1:c.613del
ENST00000689143.1:c.267del ENSP00000509839.1:p.Tyr90IlefsTer?
ENST00000689944.1:c.703del
ENST00000692637.1:c.6591del ENSP00000509666.1:p.Tyr2198IlefsTer?
XM_005269162.3:c.6594del XP_005269219.1:p.Tyr2199IlefsTer?
XM_005269162.4:c.6594del XP_005269219.1:p.Tyr2199IlefsTer?
XM_006719614.2:c.6603del XP_006719677.1:p.Tyr2202IlefsTer?
XM_006719614.4:c.6603del XP_006719677.1:p.Tyr2202IlefsTer?
XM_006719616.2:c.6591del XP_006719679.1:p.Tyr2198IlefsTer?
XM_006719616.3:c.6591del XP_006719679.1:p.Tyr2198IlefsTer?
XM_011538770.1:c.6603del XP_011537072.1:p.Tyr2202IlefsTer?
XM_011538770.2:c.6603del XP_011537072.1:p.Tyr2202IlefsTer?
XM_011538771.1:c.6600del XP_011537073.1:p.Tyr2201IlefsTer?
XM_011538771.2:c.6600del XP_011537073.1:p.Tyr2201IlefsTer?
XM_011538772.1:c.6594del XP_011537074.1:p.Tyr2199IlefsTer?
XM_011538772.2:c.6594del XP_011537074.1:p.Tyr2199IlefsTer?
XM_011538773.1:c.6591del XP_011537075.1:p.Tyr2198IlefsTer?
XM_011538773.2:c.6591del XP_011537075.1:p.Tyr2198IlefsTer?
XM_011538774.1:c.6582del XP_011537076.1:p.Tyr2195IlefsTer?
XM_011538774.2:c.6582del XP_011537076.1:p.Tyr2195IlefsTer?
XM_011538775.1:c.6603del XP_011537077.1:p.Tyr2202IlefsTer?
XM_011538776.1:c.6510del XP_011537078.1:p.Tyr2171IlefsTer?
XM_011538776.2:c.6510del XP_011537078.1:p.Tyr2171IlefsTer?
XR_001748874.1:n.7912del
XR_944740.1:n.8923del