Canonical Allele Identifier: CA2618608394

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49039463-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039464_49039465insGGG , CM000674.2:g.49039464_49039465insGGG	GRCh38
NC_000012.11:g.49433247_49433248insGGG , CM000674.1:g.49433247_49433248insGGG	GRCh37
NC_000012.10:g.47719514_47719515insGGG	NCBI36
NG_027827.1:g.20861_20862insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8200_8201insCCC	ENSP00000506726.1:p.Ser2733_Arg2734insPro
ENST00000685166.1:c.8209_8210insCCC	ENSP00000509386.1:p.Ser2736_Arg2737insPro
ENST00000689060.1:c.2219_2220insCCC
ENST00000689143.1:c.1873_1874insCCC	ENSP00000509839.1:p.Ser624_Arg625insPro
ENST00000689944.1:c.2309_2310insCCC
ENST00000692637.1:c.8197_8198insCCC	ENSP00000509666.1:p.Ser2732_Arg2733insPro
ENST00000301067.12:c.8200_8201insCCC MANE Select	ENSP00000301067.7:p.Ser2733_Arg2734insPro
ENST00000301067.11:c.8200_8201insCCC	ENSP00000301067.7:p.Ser2733_Arg2734insPro
NM_003482.3:c.8200_8201insCCC	NP_003473.3:p.Ser2733_Arg2734insPro
XM_005269162.3:c.8200_8201insCCC	XP_005269219.1:p.Ser2733_Arg2734insPro
XM_006719614.2:c.8209_8210insCCC	XP_006719677.1:p.Ser2736_Arg2737insPro
XM_006719616.2:c.8197_8198insCCC	XP_006719679.1:p.Ser2732_Arg2733insPro
XM_011538770.1:c.8209_8210insCCC	XP_011537072.1:p.Ser2736_Arg2737insPro
XM_011538771.1:c.8206_8207insCCC	XP_011537073.1:p.Ser2735_Arg2736insPro
XM_011538772.1:c.8200_8201insCCC	XP_011537074.1:p.Ser2733_Arg2734insPro
XM_011538773.1:c.8197_8198insCCC	XP_011537075.1:p.Ser2732_Arg2733insPro
XM_011538774.1:c.8188_8189insCCC	XP_011537076.1:p.Ser2729_Arg2730insPro
XM_011538775.1:c.8209_8210insCCC	XP_011537077.1:p.Ser2736_Arg2737insPro
XM_011538776.1:c.8116_8117insCCC	XP_011537078.1:p.Ser2705_Arg2706insPro
XR_944740.1:n.10529_10530insCCC
XM_005269162.4:c.8200_8201insCCC	XP_005269219.1:p.Ser2733_Arg2734insPro
XM_006719614.4:c.8209_8210insCCC	XP_006719677.1:p.Ser2736_Arg2737insPro
XM_006719616.3:c.8197_8198insCCC	XP_006719679.1:p.Ser2732_Arg2733insPro
XM_011538770.2:c.8209_8210insCCC	XP_011537072.1:p.Ser2736_Arg2737insPro
XM_011538771.2:c.8206_8207insCCC	XP_011537073.1:p.Ser2735_Arg2736insPro
XM_011538772.2:c.8200_8201insCCC	XP_011537074.1:p.Ser2733_Arg2734insPro
XM_011538773.2:c.8197_8198insCCC	XP_011537075.1:p.Ser2732_Arg2733insPro
XM_011538774.2:c.8188_8189insCCC	XP_011537076.1:p.Ser2729_Arg2730insPro
XM_011538776.2:c.8116_8117insCCC	XP_011537078.1:p.Ser2705_Arg2706insPro
XR_001748874.1:n.9518_9519insCCC
NM_003482.4:c.8200_8201insCCC MANE Select	NP_003473.3:p.Ser2733_Arg2734insPro