Canonical Allele Identifier: CA2618606057

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49032987-C-CAGCTGCTGCTGCTGCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032996_49033013dup , CM000674.2:g.49032996_49033013dup	GRCh38
NC_000012.11:g.49426779_49426796dup , CM000674.1:g.49426779_49426796dup	GRCh37
NC_000012.10:g.47713046_47713063dup	NCBI36
NG_027827.1:g.27320_27337dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11700_11717dup	ENSP00000506726.1:p.Leu3906_Gln3907insGlnGlnGlnGlnGlnLeu
ENST00000685166.1:c.11709_11726dup	ENSP00000509386.1:p.Leu3909_Gln3910insGlnGlnGlnGlnGlnLeu
ENST00000685554.1:c.1260_1277dup	ENSP00000508640.1:p.Leu426_Gln427insGlnGlnGlnGlnGlnLeu
ENST00000687201.1:c.3279_3296dup	ENSP00000510037.1:p.Leu1099_Gln1100insGlnGlnGlnGlnGlnLeu
ENST00000692637.1:c.11697_11714dup	ENSP00000509666.1:p.Leu3905_Gln3906insGlnGlnGlnGlnGlnLeu
ENST00000692841.1:c.3179_3196dup	ENSP00000508711.1:n.3179_3196dup
ENST00000301067.12:c.11700_11717dup MANE Select	ENSP00000301067.7:p.Leu3906_Gln3907insGlnGlnGlnGlnGlnLeu
ENST00000301067.11:c.11700_11717dup	ENSP00000301067.7:p.Leu3906_Gln3907insGlnGlnGlnGlnGlnLeu
NM_003482.3:c.11700_11717dup	NP_003473.3:p.Leu3906_Gln3907insGlnGlnGlnGlnGlnLeu
XM_005269162.3:c.11700_11717dup	XP_005269219.1:p.Leu3906_Gln3907insGlnGlnGlnGlnGlnLeu
XM_006719614.2:c.11709_11726dup	XP_006719677.1:p.Leu3909_Gln3910insGlnGlnGlnGlnGlnLeu
XM_006719616.2:c.11697_11714dup	XP_006719679.1:p.Leu3905_Gln3906insGlnGlnGlnGlnGlnLeu
XM_011538770.1:c.11709_11726dup	XP_011537072.1:p.Leu3909_Gln3910insGlnGlnGlnGlnGlnLeu
XM_011538771.1:c.11706_11723dup	XP_011537073.1:p.Leu3908_Gln3909insGlnGlnGlnGlnGlnLeu
XM_011538772.1:c.11700_11717dup	XP_011537074.1:p.Leu3906_Gln3907insGlnGlnGlnGlnGlnLeu
XM_011538773.1:c.11697_11714dup	XP_011537075.1:p.Leu3905_Gln3906insGlnGlnGlnGlnGlnLeu
XM_011538774.1:c.11688_11705dup	XP_011537076.1:p.Leu3902_Gln3903insGlnGlnGlnGlnGlnLeu
XM_011538775.1:c.11709_11726dup	XP_011537077.1:p.Leu3909_Gln3910insGlnGlnGlnGlnGlnLeu
XM_011538776.1:c.11616_11633dup	XP_011537078.1:p.Leu3878_Gln3879insGlnGlnGlnGlnGlnLeu
XR_944740.1:n.14029_14046dup
XM_005269162.4:c.11700_11717dup	XP_005269219.1:p.Leu3906_Gln3907insGlnGlnGlnGlnGlnLeu
XM_006719614.4:c.11709_11726dup	XP_006719677.1:p.Leu3909_Gln3910insGlnGlnGlnGlnGlnLeu
XM_006719616.3:c.11697_11714dup	XP_006719679.1:p.Leu3905_Gln3906insGlnGlnGlnGlnGlnLeu
XM_011538770.2:c.11709_11726dup	XP_011537072.1:p.Leu3909_Gln3910insGlnGlnGlnGlnGlnLeu
XM_011538771.2:c.11706_11723dup	XP_011537073.1:p.Leu3908_Gln3909insGlnGlnGlnGlnGlnLeu
XM_011538772.2:c.11700_11717dup	XP_011537074.1:p.Leu3906_Gln3907insGlnGlnGlnGlnGlnLeu
XM_011538773.2:c.11697_11714dup	XP_011537075.1:p.Leu3905_Gln3906insGlnGlnGlnGlnGlnLeu
XM_011538774.2:c.11688_11705dup	XP_011537076.1:p.Leu3902_Gln3903insGlnGlnGlnGlnGlnLeu
XM_011538776.2:c.11616_11633dup	XP_011537078.1:p.Leu3878_Gln3879insGlnGlnGlnGlnGlnLeu
XR_001748874.1:n.13018_13035dup
NM_003482.4:c.11700_11717dup MANE Select	NP_003473.3:p.Leu3906_Gln3907insGlnGlnGlnGlnGlnLeu