Canonical Allele Identifier: CA2034959469

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039460_49039473delinsCCTCGACTCAGCTG , CM000674.2:g.49039460_49039473delinsCCTCGACTCAGCTG	GRCh38
NC_000012.11:g.49433243_49433256delinsCCTCGACTCAGCTG , CM000674.1:g.49433243_49433256delinsCCTCGACTCAGCTG	GRCh37
NC_000012.10:g.47719510_47719523delinsCCTCGACTCAGCTG	NCBI36
NG_027827.1:g.20852_20865delinsCAGCTGAGTCGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8191_8204delinsCAGCTGAGTCGAGG	ENSP00000506726.1:p.Gln2731=
ENST00000685166.1:c.8200_8213delinsCAGCTGAGTCGAGG	ENSP00000509386.1:p.Gln2734=
ENST00000689060.1:c.2210_2223delinsCAGCTGAGTCGAGG
ENST00000689143.1:c.1864_1877delinsCAGCTGAGTCGAGG	ENSP00000509839.1:p.Gln622=
ENST00000689944.1:c.2300_2313delinsCAGCTGAGTCGAGG
ENST00000692637.1:c.8188_8201delinsCAGCTGAGTCGAGG	ENSP00000509666.1:p.Gln2730=
ENST00000301067.12:c.8191_8204delinsCAGCTGAGTCGAGG MANE Select	ENSP00000301067.7:p.Gln2731=
ENST00000301067.11:c.8191_8204delinsCAGCTGAGTCGAGG	ENSP00000301067.7:p.Gln2731=
NM_003482.3:c.8191_8204delinsCAGCTGAGTCGAGG	NP_003473.3:p.Gln2731=
XM_005269162.3:c.8191_8204delinsCAGCTGAGTCGAGG	XP_005269219.1:p.Gln2731=
XM_006719614.2:c.8200_8213delinsCAGCTGAGTCGAGG	XP_006719677.1:p.Gln2734=
XM_006719616.2:c.8188_8201delinsCAGCTGAGTCGAGG	XP_006719679.1:p.Gln2730=
XM_011538770.1:c.8200_8213delinsCAGCTGAGTCGAGG	XP_011537072.1:p.Gln2734=
XM_011538771.1:c.8197_8210delinsCAGCTGAGTCGAGG	XP_011537073.1:p.Gln2733=
XM_011538772.1:c.8191_8204delinsCAGCTGAGTCGAGG	XP_011537074.1:p.Gln2731=
XM_011538773.1:c.8188_8201delinsCAGCTGAGTCGAGG	XP_011537075.1:p.Gln2730=
XM_011538774.1:c.8179_8192delinsCAGCTGAGTCGAGG	XP_011537076.1:p.Gln2727=
XM_011538775.1:c.8200_8213delinsCAGCTGAGTCGAGG	XP_011537077.1:p.Gln2734=
XM_011538776.1:c.8107_8120delinsCAGCTGAGTCGAGG	XP_011537078.1:p.Gln2703=
XR_944740.1:n.10520_10533delinsCAGCTGAGTCGAGG
XM_005269162.4:c.8191_8204delinsCAGCTGAGTCGAGG	XP_005269219.1:p.Gln2731=
XM_006719614.4:c.8200_8213delinsCAGCTGAGTCGAGG	XP_006719677.1:p.Gln2734=
XM_006719616.3:c.8188_8201delinsCAGCTGAGTCGAGG	XP_006719679.1:p.Gln2730=
XM_011538770.2:c.8200_8213delinsCAGCTGAGTCGAGG	XP_011537072.1:p.Gln2734=
XM_011538771.2:c.8197_8210delinsCAGCTGAGTCGAGG	XP_011537073.1:p.Gln2733=
XM_011538772.2:c.8191_8204delinsCAGCTGAGTCGAGG	XP_011537074.1:p.Gln2731=
XM_011538773.2:c.8188_8201delinsCAGCTGAGTCGAGG	XP_011537075.1:p.Gln2730=
XM_011538774.2:c.8179_8192delinsCAGCTGAGTCGAGG	XP_011537076.1:p.Gln2727=
XM_011538776.2:c.8107_8120delinsCAGCTGAGTCGAGG	XP_011537078.1:p.Gln2703=
XR_001748874.1:n.9509_9522delinsCAGCTGAGTCGAGG
NM_003482.4:c.8191_8204delinsCAGCTGAGTCGAGG MANE Select	NP_003473.3:p.Gln2731=