Canonical Allele Identifier: CA2512222109

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148880_152148884del , CM000669.2:g.152148880_152148884del	GRCh38
NC_000007.13:g.151845965_151845969del , CM000669.1:g.151845965_151845969del	GRCh37
NC_000007.12:g.151476898_151476902del	NCBI36
NG_033948.1:g.292122_292126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1231_1235del
ENST00000682116.1:n.2175_2179del
ENST00000682283.1:c.13214_13218del	ENSP00000507485.1:p.Leu4405GlnfsTer19
ENST00000682629.1:n.2343_2347del
ENST00000683120.1:n.8235_8239del
ENST00000683178.1:c.3616_3620del
ENST00000683200.1:c.10553_10557del	ENSP00000508052.1:p.Leu3518GlnfsTer19
ENST00000683337.1:n.4673_4677del
ENST00000683502.1:c.3688_3692del
ENST00000683621.1:n.1809_1813del
ENST00000683640.1:n.1759_1763del
ENST00000684069.1:c.1460_1464del	ENSP00000507650.1:p.Leu487GlnfsTer19
ENST00000684261.1:c.7940_7944del	ENSP00000508097.1:p.Leu2647GlnfsTer19
ENST00000684649.1:c.3688_3692del
ENST00000262189.11:c.13043_13047del MANE Select	ENSP00000262189.6:p.Leu4348GlnfsTer19
ENST00000360104.8:c.8830_8834del
ENST00000418061.2:c.3685_3689del
ENST00000424877.6:c.3619_3623del
ENST00000679393.1:n.7754_7758del
ENST00000679560.1:c.7943_7947del	ENSP00000505094.1:p.Leu2648GlnfsTer19
ENST00000679882.1:c.12608_12612del	ENSP00000506154.1:p.Leu4203GlnfsTer19
ENST00000680029.1:c.3620_3624del
ENST00000680877.1:c.7943_7947del	ENSP00000505724.1:p.Leu2648GlnfsTer19
ENST00000681923.1:n.2058_2062del
ENST00000262189.10:c.13043_13047del	ENSP00000262189.6:p.Leu4348GlnfsTer19
ENST00000355193.6:c.13043_13047del	ENSP00000347325.3:p.Leu4348GlnfsTer19
ENST00000360104.7:c.5724_5728del
ENST00000424877.5:c.2894_2898del	ENSP00000410411.1:p.Leu965GlnfsTer19
ENST00000473186.5:n.10925_10929del
ENST00000558084.5:c.*10563_*10567del	ENSP00000453752.1:n.*10563_*10567del
NM_170606.2:c.13043_13047del	NP_733751.2:p.Leu4348GlnfsTer19
XM_005250025.3:c.13259_13263del	XP_005250082.1:p.Leu4420GlnfsTer19
XM_005250026.2:c.13256_13260del	XP_005250083.1:p.Leu4419GlnfsTer19
XM_005250027.3:c.13256_13260del	XP_005250084.1:p.Leu4419GlnfsTer19
XM_005250028.3:c.13259_13263del	XP_005250085.1:p.Leu4420GlnfsTer19
XM_005250031.3:c.13094_13098del	XP_005250088.1:p.Leu4365GlnfsTer19
XM_006716077.2:c.13256_13260del	XP_006716140.1:p.Leu4419GlnfsTer19
XM_006716078.2:c.13187_13191del	XP_006716141.1:p.Leu4396GlnfsTer19
XM_006716079.2:c.13091_13095del	XP_006716142.1:p.Leu4364GlnfsTer19
XM_011516450.1:c.13211_13215del	XP_011514752.1:p.Leu4404GlnfsTer19
XM_011516451.1:c.13139_13143del	XP_011514753.1:p.Leu4380GlnfsTer19
XM_011516452.1:c.13106_13110del	XP_011514754.1:p.Leu4369GlnfsTer19
XM_011516453.1:c.13022_13026del	XP_011514755.1:p.Leu4341GlnfsTer19
XM_011516454.1:c.12344_12348del	XP_011514756.1:p.Leu4115GlnfsTer19
XM_011516455.1:c.10805_10809del	XP_011514757.1:p.Leu3602GlnfsTer19
XM_011516456.1:c.13211_13215del	XP_011514758.1:p.Leu4404GlnfsTer19
XM_005250025.4:c.13259_13263del	XP_005250082.1:p.Leu4420GlnfsTer19
XM_005250026.3:c.13256_13260del	XP_005250083.1:p.Leu4419GlnfsTer19
XM_005250027.4:c.13256_13260del	XP_005250084.1:p.Leu4419GlnfsTer19
XM_005250028.4:c.13259_13263del	XP_005250085.1:p.Leu4420GlnfsTer19
XM_005250031.4:c.13094_13098del	XP_005250088.1:p.Leu4365GlnfsTer19
XM_006716077.3:c.13256_13260del	XP_006716140.1:p.Leu4419GlnfsTer19
XM_006716078.3:c.13187_13191del	XP_006716141.1:p.Leu4396GlnfsTer19
XM_006716079.3:c.13091_13095del	XP_006716142.1:p.Leu4364GlnfsTer19
XM_011516450.2:c.13211_13215del	XP_011514752.1:p.Leu4404GlnfsTer19
XM_011516451.2:c.13139_13143del	XP_011514753.1:p.Leu4380GlnfsTer19
XM_011516452.2:c.13106_13110del	XP_011514754.1:p.Leu4369GlnfsTer19
XM_011516453.2:c.13022_13026del	XP_011514755.1:p.Leu4341GlnfsTer19
XM_011516454.2:c.12344_12348del	XP_011514756.1:p.Leu4115GlnfsTer19
XM_011516456.2:c.13211_13215del	XP_011514758.1:p.Leu4404GlnfsTer19
XM_017012480.1:c.13259_13263del	XP_016867969.1:p.Leu4420GlnfsTer19
XM_017012481.1:c.13256_13260del	XP_016867970.1:p.Leu4419GlnfsTer19
XM_017012482.1:c.13256_13260del	XP_016867971.1:p.Leu4419GlnfsTer19
XM_017012483.1:c.13256_13260del	XP_016867972.1:p.Leu4419GlnfsTer19
XM_017012484.1:c.13226_13230del	XP_016867973.1:p.Leu4409GlnfsTer19
XM_017012485.1:c.13208_13212del	XP_016867974.1:p.Leu4403GlnfsTer19
XM_017012486.1:c.13184_13188del	XP_016867975.1:p.Leu4395GlnfsTer19
XM_017012487.1:c.13112_13116del	XP_016867976.1:p.Leu4371GlnfsTer19
XM_017012488.1:c.13076_13080del	XP_016867977.1:p.Leu4359GlnfsTer19
XM_017012489.1:c.9929_9933del	XP_016867978.1:p.Leu3310GlnfsTer19
XM_017012490.2:c.9533_9537del	XP_016867979.1:p.Leu3178GlnfsTer19
XM_024446852.1:c.13256_13260del	XP_024302620.1:p.Leu4419GlnfsTer19
XM_024446853.1:c.13184_13188del	XP_024302621.1:p.Leu4395GlnfsTer19
NM_170606.3:c.13043_13047del MANE Select	NP_733751.2:p.Leu4348GlnfsTer19