Canonical Allele Identifier: CA2580614293

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152181292_152181295del , CM000669.2:g.152181292_152181295del	GRCh38
NC_000007.13:g.151878377_151878380del , CM000669.1:g.151878377_151878380del	GRCh37
NC_000007.12:g.151509310_151509313del	NCBI36
NG_033948.1:g.259716_259719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682176.1:c.3289_3292del
ENST00000682283.1:c.6570_6573del	ENSP00000507485.1:p.Phe2190LeufsTer4
ENST00000683159.1:c.1880_1883del
ENST00000683200.1:c.3918_3921del	ENSP00000508052.1:p.Phe1306LeufsTer4
ENST00000683397.1:c.1305_1308del	ENSP00000507053.1:p.Phe435LeufsTer4
ENST00000683625.1:c.1305_1308del	ENSP00000507769.1:p.Phe435LeufsTer4
ENST00000683670.1:c.1305_1308del	ENSP00000507634.1:p.Phe435LeufsTer4
ENST00000684261.1:c.1305_1308del	ENSP00000508097.1:p.Phe435LeufsTer4
ENST00000684307.1:c.1305_1308del	ENSP00000507202.1:p.Phe435LeufsTer4
ENST00000684398.1:c.1305_1308del	ENSP00000507254.1:p.Phe435LeufsTer4
ENST00000262189.11:c.6570_6573del MANE Select	ENSP00000262189.6:p.Phe2190LeufsTer4
ENST00000360104.8:c.2192_2195del
ENST00000558665.2:c.438+867_438+870del	ENSP00000454058.2:n.438+867_438+870del
ENST00000679393.1:n.61_64del
ENST00000679560.1:c.1305_1308del	ENSP00000505094.1:p.Phe435LeufsTer4
ENST00000679645.1:c.*2663_*2666del	ENSP00000505745.1:n.*2663_*2666del
ENST00000679882.1:c.6345_6348del	ENSP00000506154.1:p.Phe2115LeufsTer4
ENST00000680877.1:c.1305_1308del	ENSP00000505724.1:p.Phe435LeufsTer4
ENST00000680969.1:c.3966_3969del	ENSP00000505951.1:p.Phe1322LeufsTer4
ENST00000681033.1:c.5268_5271del	ENSP00000505058.1:p.Phe1756LeufsTer4
ENST00000262189.10:c.6570_6573del	ENSP00000262189.6:p.Phe2190LeufsTer4
ENST00000355193.6:c.6570_6573del	ENSP00000347325.3:p.Phe2190LeufsTer4
ENST00000473186.5:n.4281_4284del
ENST00000558084.5:c.*4090_*4093del	ENSP00000453752.1:n.*4090_*4093del
ENST00000558665.1:c.63+867_63+870del	ENSP00000454058.1:n.63+867_63+870del
NM_170606.2:c.6570_6573del	NP_733751.2:p.Phe2190LeufsTer4
XM_005250025.3:c.6621_6624del	XP_005250082.1:p.Phe2207LeufsTer4
XM_005250026.2:c.6618_6621del	XP_005250083.1:p.Phe2206LeufsTer4
XM_005250027.3:c.6621_6624del	XP_005250084.1:p.Phe2207LeufsTer4
XM_005250028.3:c.6621_6624del	XP_005250085.1:p.Phe2207LeufsTer4
XM_005250031.3:c.6621_6624del	XP_005250088.1:p.Phe2207LeufsTer4
XM_006716077.2:c.6621_6624del	XP_006716140.1:p.Phe2207LeufsTer4
XM_006716078.2:c.6621_6624del	XP_006716141.1:p.Phe2207LeufsTer4
XM_006716079.2:c.6621_6624del	XP_006716142.1:p.Phe2207LeufsTer4
XM_011516450.1:c.6573_6576del	XP_011514752.1:p.Phe2191LeufsTer4
XM_011516451.1:c.6501_6504del	XP_011514753.1:p.Phe2167LeufsTer4
XM_011516452.1:c.6468_6471del	XP_011514754.1:p.Phe2156LeufsTer4
XM_011516453.1:c.6621_6624del	XP_011514755.1:p.Phe2207LeufsTer4
XM_011516454.1:c.5706_5709del	XP_011514756.1:p.Phe1902LeufsTer4
XM_011516455.1:c.4167_4170del	XP_011514757.1:p.Phe1389LeufsTer4
XM_011516456.1:c.6573_6576del	XP_011514758.1:p.Phe2191LeufsTer4
XR_428183.2:n.6829_6832del
XM_005250025.4:c.6621_6624del	XP_005250082.1:p.Phe2207LeufsTer4
XM_005250026.3:c.6618_6621del	XP_005250083.1:p.Phe2206LeufsTer4
XM_005250027.4:c.6621_6624del	XP_005250084.1:p.Phe2207LeufsTer4
XM_005250028.4:c.6621_6624del	XP_005250085.1:p.Phe2207LeufsTer4
XM_005250031.4:c.6621_6624del	XP_005250088.1:p.Phe2207LeufsTer4
XM_006716077.3:c.6621_6624del	XP_006716140.1:p.Phe2207LeufsTer4
XM_006716078.3:c.6621_6624del	XP_006716141.1:p.Phe2207LeufsTer4
XM_006716079.3:c.6621_6624del	XP_006716142.1:p.Phe2207LeufsTer4
XM_011516450.2:c.6573_6576del	XP_011514752.1:p.Phe2191LeufsTer4
XM_011516451.2:c.6501_6504del	XP_011514753.1:p.Phe2167LeufsTer4
XM_011516452.2:c.6468_6471del	XP_011514754.1:p.Phe2156LeufsTer4
XM_011516453.2:c.6621_6624del	XP_011514755.1:p.Phe2207LeufsTer4
XM_011516454.2:c.5706_5709del	XP_011514756.1:p.Phe1902LeufsTer4
XM_011516456.2:c.6573_6576del	XP_011514758.1:p.Phe2191LeufsTer4
XM_017012480.1:c.6621_6624del	XP_016867969.1:p.Phe2207LeufsTer4
XM_017012481.1:c.6618_6621del	XP_016867970.1:p.Phe2206LeufsTer4
XM_017012482.1:c.6621_6624del	XP_016867971.1:p.Phe2207LeufsTer4
XM_017012483.1:c.6621_6624del	XP_016867972.1:p.Phe2207LeufsTer4
XM_017012484.1:c.6588_6591del	XP_016867973.1:p.Phe2196LeufsTer4
XM_017012485.1:c.6570_6573del	XP_016867974.1:p.Phe2190LeufsTer4
XM_017012486.1:c.6621_6624del	XP_016867975.1:p.Phe2207LeufsTer4
XM_017012487.1:c.6474_6477del	XP_016867976.1:p.Phe2158LeufsTer4
XM_017012488.1:c.6438_6441del	XP_016867977.1:p.Phe2146LeufsTer4
XM_017012489.1:c.3291_3294del	XP_016867978.1:p.Phe1097LeufsTer4
XM_017012490.2:c.2895_2898del	XP_016867979.1:p.Phe965LeufsTer4
XM_024446852.1:c.6618_6621del	XP_024302620.1:p.Phe2206LeufsTer4
XM_024446853.1:c.6621_6624del	XP_024302621.1:p.Phe2207LeufsTer4
XR_428183.3:n.6853_6856del
NM_170606.3:c.6570_6573del MANE Select	NP_733751.2:p.Phe2190LeufsTer4