Canonical Allele Identifier: CA2573053674

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024654_49024655delinsAA , CM000674.2:g.49024654_49024655delinsAA	GRCh38
NC_000012.11:g.49418437_49418438delinsAA , CM000674.1:g.49418437_49418438delinsAA	GRCh37
NC_000012.10:g.47704704_47704705delinsAA	NCBI36
NG_027827.1:g.35670_35671delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.647_648delinsTT
ENST00000683543.2:c.15975_15976delinsTT	ENSP00000506726.1:p.Leu5326Phe
ENST00000683863.1:n.1690_1691delinsTT
ENST00000684428.1:c.510_511delinsTT	ENSP00000507433.1:p.Leu171Phe
ENST00000684755.1:n.510_511delinsTT
ENST00000685024.1:c.1129_1130delinsTT
ENST00000685166.1:c.15984_15985delinsTT	ENSP00000509386.1:p.Leu5329Phe
ENST00000688411.1:c.452_453delinsTT	ENSP00000510146.1:n.452_453delinsTT
ENST00000691932.1:c.54_55delinsTT	ENSP00000509037.1:p.Leu19Phe
ENST00000692637.1:c.15972_15973delinsTT	ENSP00000509666.1:p.Leu5325Phe
ENST00000301067.12:c.15975_15976delinsTT MANE Select	ENSP00000301067.7:p.Leu5326Phe
ENST00000301067.11:c.15975_15976delinsTT	ENSP00000301067.7:p.Leu5326Phe
NM_003482.3:c.15975_15976delinsTT	NP_003473.3:p.Leu5326Phe
XM_005269162.3:c.15975_15976delinsTT	XP_005269219.1:p.Leu5326Phe
XM_006719614.2:c.15984_15985delinsTT	XP_006719677.1:p.Leu5329Phe
XM_006719616.2:c.15972_15973delinsTT	XP_006719679.1:p.Leu5325Phe
XM_011538770.1:c.15984_15985delinsTT	XP_011537072.1:p.Leu5329Phe
XM_011538771.1:c.15981_15982delinsTT	XP_011537073.1:p.Leu5328Phe
XM_011538772.1:c.15975_15976delinsTT	XP_011537074.1:p.Leu5326Phe
XM_011538773.1:c.15972_15973delinsTT	XP_011537075.1:p.Leu5325Phe
XM_011538774.1:c.15963_15964delinsTT	XP_011537076.1:p.Leu5322Phe
XM_011538775.1:c.15918_15919delinsTT	XP_011537077.1:p.Leu5307Phe
XM_011538776.1:c.15891_15892delinsTT	XP_011537078.1:p.Leu5298Phe
XM_005269162.4:c.15975_15976delinsTT	XP_005269219.1:p.Leu5326Phe
XM_006719614.4:c.15984_15985delinsTT	XP_006719677.1:p.Leu5329Phe
XM_006719616.3:c.15972_15973delinsTT	XP_006719679.1:p.Leu5325Phe
XM_011538770.2:c.15984_15985delinsTT	XP_011537072.1:p.Leu5329Phe
XM_011538771.2:c.15981_15982delinsTT	XP_011537073.1:p.Leu5328Phe
XM_011538772.2:c.15975_15976delinsTT	XP_011537074.1:p.Leu5326Phe
XM_011538773.2:c.15972_15973delinsTT	XP_011537075.1:p.Leu5325Phe
XM_011538774.2:c.15963_15964delinsTT	XP_011537076.1:p.Leu5322Phe
XM_011538776.2:c.15891_15892delinsTT	XP_011537078.1:p.Leu5298Phe
XR_001748874.1:n.16152_16153delinsTT
NM_003482.4:c.15975_15976delinsTT MANE Select	NP_003473.3:p.Leu5326Phe