Canonical Allele Identifier: CA2034959507

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039488_49039493delinsTGCTGG , CM000674.2:g.49039488_49039493delinsTGCTGG	GRCh38
NC_000012.11:g.49433271_49433276delinsTGCTGG , CM000674.1:g.49433271_49433276delinsTGCTGG	GRCh37
NC_000012.10:g.47719538_47719543delinsTGCTGG	NCBI36
NG_027827.1:g.20832_20837delinsCCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8171_8176delinsCCAGCA	ENSP00000506726.1:p.Pro2724=
ENST00000685166.1:c.8180_8185delinsCCAGCA	ENSP00000509386.1:p.Pro2727=
ENST00000689060.1:c.2190_2195delinsCCAGCA
ENST00000689143.1:c.1844_1849delinsCCAGCA	ENSP00000509839.1:p.Pro615=
ENST00000689944.1:c.2280_2285delinsCCAGCA
ENST00000692637.1:c.8168_8173delinsCCAGCA	ENSP00000509666.1:p.Pro2723=
ENST00000301067.12:c.8171_8176delinsCCAGCA MANE Select	ENSP00000301067.7:p.Pro2724=
ENST00000301067.11:c.8171_8176delinsCCAGCA	ENSP00000301067.7:p.Pro2724=
NM_003482.3:c.8171_8176delinsCCAGCA	NP_003473.3:p.Pro2724=
XM_005269162.3:c.8171_8176delinsCCAGCA	XP_005269219.1:p.Pro2724=
XM_006719614.2:c.8180_8185delinsCCAGCA	XP_006719677.1:p.Pro2727=
XM_006719616.2:c.8168_8173delinsCCAGCA	XP_006719679.1:p.Pro2723=
XM_011538770.1:c.8180_8185delinsCCAGCA	XP_011537072.1:p.Pro2727=
XM_011538771.1:c.8177_8182delinsCCAGCA	XP_011537073.1:p.Pro2726=
XM_011538772.1:c.8171_8176delinsCCAGCA	XP_011537074.1:p.Pro2724=
XM_011538773.1:c.8168_8173delinsCCAGCA	XP_011537075.1:p.Pro2723=
XM_011538774.1:c.8159_8164delinsCCAGCA	XP_011537076.1:p.Pro2720=
XM_011538775.1:c.8180_8185delinsCCAGCA	XP_011537077.1:p.Pro2727=
XM_011538776.1:c.8087_8092delinsCCAGCA	XP_011537078.1:p.Pro2696=
XR_944740.1:n.10500_10505delinsCCAGCA
XM_005269162.4:c.8171_8176delinsCCAGCA	XP_005269219.1:p.Pro2724=
XM_006719614.4:c.8180_8185delinsCCAGCA	XP_006719677.1:p.Pro2727=
XM_006719616.3:c.8168_8173delinsCCAGCA	XP_006719679.1:p.Pro2723=
XM_011538770.2:c.8180_8185delinsCCAGCA	XP_011537072.1:p.Pro2727=
XM_011538771.2:c.8177_8182delinsCCAGCA	XP_011537073.1:p.Pro2726=
XM_011538772.2:c.8171_8176delinsCCAGCA	XP_011537074.1:p.Pro2724=
XM_011538773.2:c.8168_8173delinsCCAGCA	XP_011537075.1:p.Pro2723=
XM_011538774.2:c.8159_8164delinsCCAGCA	XP_011537076.1:p.Pro2720=
XM_011538776.2:c.8087_8092delinsCCAGCA	XP_011537078.1:p.Pro2696=
XR_001748874.1:n.9489_9494delinsCCAGCA
NM_003482.4:c.8171_8176delinsCCAGCA MANE Select	NP_003473.3:p.Pro2724=