Canonical Allele Identifier: CA6545386

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022378_49022380del , CM000674.2:g.49022378_49022380del	GRCh38
NC_000012.11:g.49416161_49416163del , CM000674.1:g.49416161_49416163del	GRCh37
NC_000012.10:g.47702428_47702430del	NCBI36
NG_027827.1:g.37950_37952del

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16339-22_16339-20del MANE Select	NP_003473.3:n.16339-22_16339-20del
ENST00000301067.12:c.16339-22_16339-20del MANE Select	ENSP00000301067.7:n.16339-22_16339-20del
NM_003482.3:c.16339-22_16339-20del	NP_003473.3:n.16339-22_16339-20del
ENST00000301067.11:c.16339-22_16339-20del	ENSP00000301067.7:n.16339-22_16339-20del
ENST00000526209.1:c.382-22_382-20del	ENSP00000435714.1:n.382-22_382-20del
ENST00000526209.2:c.309-22_309-20del
ENST00000681974.1:n.1011-22_1011-20del
ENST00000682693.1:n.1973-22_1973-20del
ENST00000682886.1:n.723_725del
ENST00000683543.2:c.16387-22_16387-20del	ENSP00000506726.1:n.16387-22_16387-20del
ENST00000683988.1:c.310-22_310-20del	ENSP00000506939.1:n.310-22_310-20del
ENST00000684428.1:c.910_912del	ENSP00000507433.1:p.Ser304del
ENST00000685024.1:c.1493-22_1493-20del
ENST00000685166.1:c.16348-22_16348-20del	ENSP00000509386.1:n.16348-22_16348-20del
ENST00000691932.1:c.340-22_340-20del	ENSP00000509037.1:n.340-22_340-20del
ENST00000692637.1:c.16336-22_16336-20del	ENSP00000509666.1:n.16336-22_16336-20del
XM_005269162.3:c.16339-22_16339-20del	XP_005269219.1:n.16339-22_16339-20del
XM_005269162.4:c.16339-22_16339-20del	XP_005269219.1:n.16339-22_16339-20del
XM_006719614.2:c.16348-22_16348-20del	XP_006719677.1:n.16348-22_16348-20del
XM_006719614.4:c.16348-22_16348-20del	XP_006719677.1:n.16348-22_16348-20del
XM_006719616.2:c.16336-22_16336-20del	XP_006719679.1:n.16336-22_16336-20del
XM_006719616.3:c.16336-22_16336-20del	XP_006719679.1:n.16336-22_16336-20del
XM_011538770.1:c.16396-22_16396-20del	XP_011537072.1:n.16396-22_16396-20del
XM_011538770.2:c.16396-22_16396-20del	XP_011537072.1:n.16396-22_16396-20del
XM_011538771.1:c.16393-22_16393-20del	XP_011537073.1:n.16393-22_16393-20del
XM_011538771.2:c.16393-22_16393-20del	XP_011537073.1:n.16393-22_16393-20del
XM_011538772.1:c.16387-22_16387-20del	XP_011537074.1:n.16387-22_16387-20del
XM_011538772.2:c.16387-22_16387-20del	XP_011537074.1:n.16387-22_16387-20del
XM_011538773.1:c.16384-22_16384-20del	XP_011537075.1:n.16384-22_16384-20del
XM_011538773.2:c.16384-22_16384-20del	XP_011537075.1:n.16384-22_16384-20del
XM_011538774.1:c.16375-22_16375-20del	XP_011537076.1:n.16375-22_16375-20del
XM_011538774.2:c.16375-22_16375-20del	XP_011537076.1:n.16375-22_16375-20del
XM_011538775.1:c.16330-22_16330-20del	XP_011537077.1:n.16330-22_16330-20del
XM_011538776.1:c.16303-22_16303-20del	XP_011537078.1:n.16303-22_16303-20del
XM_011538776.2:c.16303-22_16303-20del	XP_011537078.1:n.16303-22_16303-20del
XR_001748874.1:n.16516-22_16516-20del