Canonical Allele Identifier: CA2559232884

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022232_49022235del , CM000674.2:g.49022232_49022235del	GRCh38
NC_000012.11:g.49416015_49416018del , CM000674.1:g.49416015_49416018del	GRCh37
NC_000012.10:g.47702282_47702285del	NCBI36
NG_027827.1:g.38090_38093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.382+45_382+48del
ENST00000681974.1:n.1084+45_1084+48del
ENST00000682693.1:n.2046+45_2046+48del
ENST00000682886.1:n.818+45_818+48del
ENST00000683543.2:c.16460+45_16460+48del	ENSP00000506726.1:n.16460+45_16460+48del
ENST00000683988.1:c.383+45_383+48del	ENSP00000506939.1:n.383+45_383+48del
ENST00000684428.1:c.1005+45_1005+48del	ENSP00000507433.1:n.1005+45_1005+48del
ENST00000685024.1:c.1566+45_1566+48del
ENST00000685166.1:c.16421+45_16421+48del	ENSP00000509386.1:n.16421+45_16421+48del
ENST00000691932.1:c.413+45_413+48del	ENSP00000509037.1:n.413+45_413+48del
ENST00000692637.1:c.16409+45_16409+48del	ENSP00000509666.1:n.16409+45_16409+48del
ENST00000301067.12:c.16412+45_16412+48del MANE Select	ENSP00000301067.7:n.16412+45_16412+48del
ENST00000301067.11:c.16412+45_16412+48del	ENSP00000301067.7:n.16412+45_16412+48del
ENST00000526209.1:c.455+45_455+48del	ENSP00000435714.1:n.455+45_455+48del
NM_003482.3:c.16412+45_16412+48del	NP_003473.3:n.16412+45_16412+48del
XM_005269162.3:c.16412+45_16412+48del	XP_005269219.1:n.16412+45_16412+48del
XM_006719614.2:c.16421+45_16421+48del	XP_006719677.1:n.16421+45_16421+48del
XM_006719616.2:c.16409+45_16409+48del	XP_006719679.1:n.16409+45_16409+48del
XM_011538770.1:c.16469+45_16469+48del	XP_011537072.1:n.16469+45_16469+48del
XM_011538771.1:c.16466+45_16466+48del	XP_011537073.1:n.16466+45_16466+48del
XM_011538772.1:c.16460+45_16460+48del	XP_011537074.1:n.16460+45_16460+48del
XM_011538773.1:c.16457+45_16457+48del	XP_011537075.1:n.16457+45_16457+48del
XM_011538774.1:c.16448+45_16448+48del	XP_011537076.1:n.16448+45_16448+48del
XM_011538775.1:c.16403+45_16403+48del	XP_011537077.1:n.16403+45_16403+48del
XM_011538776.1:c.16376+45_16376+48del	XP_011537078.1:n.16376+45_16376+48del
XM_005269162.4:c.16412+45_16412+48del	XP_005269219.1:n.16412+45_16412+48del
XM_006719614.4:c.16421+45_16421+48del	XP_006719677.1:n.16421+45_16421+48del
XM_006719616.3:c.16409+45_16409+48del	XP_006719679.1:n.16409+45_16409+48del
XM_011538770.2:c.16469+45_16469+48del	XP_011537072.1:n.16469+45_16469+48del
XM_011538771.2:c.16466+45_16466+48del	XP_011537073.1:n.16466+45_16466+48del
XM_011538772.2:c.16460+45_16460+48del	XP_011537074.1:n.16460+45_16460+48del
XM_011538773.2:c.16457+45_16457+48del	XP_011537075.1:n.16457+45_16457+48del
XM_011538774.2:c.16448+45_16448+48del	XP_011537076.1:n.16448+45_16448+48del
XM_011538776.2:c.16376+45_16376+48del	XP_011537078.1:n.16376+45_16376+48del
XR_001748874.1:n.16589+45_16589+48del
NM_003482.4:c.16412+45_16412+48del MANE Select	NP_003473.3:n.16412+45_16412+48del