Canonical Allele Identifier: CA2695216454
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49042308_49042324dup , CM000674.2:g.49042308_49042324dup GRCh38
NC_000012.11:g.49436091_49436107dup , CM000674.1:g.49436091_49436107dup GRCh37
NC_000012.10:g.47722358_47722374dup NCBI36
NG_027827.1:g.18004_18020dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650290.2:c.680-12_684dup
ENST00000683543.2:c.5877_5893dup ENSP00000506726.1:p.Glu1965GlyfsTer?
ENST00000685166.1:c.5886_5902dup ENSP00000509386.1:p.Glu1968GlyfsTer?
ENST00000692637.1:c.5874_5890dup ENSP00000509666.1:p.Glu1964GlyfsTer?
ENST00000301067.12:c.5877_5893dup MANE Select ENSP00000301067.7:p.Glu1965GlyfsTer?
ENST00000301067.11:c.5877_5893dup ENSP00000301067.7:p.Glu1965GlyfsTer?
NM_003482.3:c.5877_5893dup NP_003473.3:p.Glu1965GlyfsTer?
XM_005269162.3:c.5877_5893dup XP_005269219.1:p.Glu1965GlyfsTer?
XM_006719614.2:c.5886_5902dup XP_006719677.1:p.Glu1968GlyfsTer?
XM_006719616.2:c.5874_5890dup XP_006719679.1:p.Glu1964GlyfsTer?
XM_011538770.1:c.5886_5902dup XP_011537072.1:p.Glu1968GlyfsTer?
XM_011538771.1:c.5883_5899dup XP_011537073.1:p.Glu1967GlyfsTer?
XM_011538772.1:c.5877_5893dup XP_011537074.1:p.Glu1965GlyfsTer?
XM_011538773.1:c.5874_5890dup XP_011537075.1:p.Glu1964GlyfsTer?
XM_011538774.1:c.5877-12_5881dup
XM_011538775.1:c.5886_5902dup XP_011537077.1:p.Glu1968GlyfsTer?
XM_011538776.1:c.5886_5902dup XP_011537078.1:p.Glu1968GlyfsTer?
XR_944740.1:n.8206_8222dup
XM_005269162.4:c.5877_5893dup XP_005269219.1:p.Glu1965GlyfsTer?
XM_006719614.4:c.5886_5902dup XP_006719677.1:p.Glu1968GlyfsTer?
XM_006719616.3:c.5874_5890dup XP_006719679.1:p.Glu1964GlyfsTer?
XM_011538770.2:c.5886_5902dup XP_011537072.1:p.Glu1968GlyfsTer?
XM_011538771.2:c.5883_5899dup XP_011537073.1:p.Glu1967GlyfsTer?
XM_011538772.2:c.5877_5893dup XP_011537074.1:p.Glu1965GlyfsTer?
XM_011538773.2:c.5874_5890dup XP_011537075.1:p.Glu1964GlyfsTer?
XM_011538774.2:c.5877-12_5881dup
XM_011538776.2:c.5886_5902dup XP_011537078.1:p.Glu1968GlyfsTer?
XR_001748874.1:n.7195_7211dup
NM_003482.4:c.5877_5893dup MANE Select NP_003473.3:p.Glu1965GlyfsTer?