Canonical Allele Identifier: CA2034963291

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022605_49022622delinsTTTCTCCCGCCGGTTGGC , CM000674.2:g.49022605_49022622delinsTTTCTCCCGCCGGTTGGC	GRCh38
NC_000012.11:g.49416388_49416405delinsTTTCTCCCGCCGGTTGGC , CM000674.1:g.49416388_49416405delinsTTTCTCCCGCCGGTTGGC	GRCh37
NC_000012.10:g.47702655_47702672delinsTTTCTCCCGCCGGTTGGC	NCBI36
NG_027827.1:g.37703_37720delinsGCCAACCGGCGGGAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.276_293delinsGCCAACCGGCGGGAGAAA
ENST00000681974.1:n.978_995delinsGCCAACCGGCGGGAGAAA
ENST00000682693.1:n.1940_1957delinsGCCAACCGGCGGGAGAAA
ENST00000682886.1:n.476_493delinsGCCAACCGGCGGGAGAAA
ENST00000683543.2:c.16354_16371delinsGCCAACCGGCGGGAGAAA	ENSP00000506726.1:p.Ala5452=
ENST00000683988.1:c.277_294delinsGCCAACCGGCGGGAGAAA	ENSP00000506939.1:p.Ala93=
ENST00000684428.1:c.841_858delinsGCCAACCGGCGGGAGAAA	ENSP00000507433.1:p.Ala281=
ENST00000684755.1:n.889_906delinsGCCAACCGGCGGGAGAAA
ENST00000685024.1:c.1460_1477delinsGCCAACCGGCGGGAGAAA
ENST00000685166.1:c.16315_16332delinsGCCAACCGGCGGGAGAAA	ENSP00000509386.1:p.Ala5439=
ENST00000688411.1:c.783_800delinsGCCAACCGGCGGGAGAAA	ENSP00000510146.1:n.783_800delinsGCCAACCGGCGGGAGAAA
ENST00000691932.1:c.307_324delinsGCCAACCGGCGGGAGAAA	ENSP00000509037.1:p.Ala103=
ENST00000692637.1:c.16303_16320delinsGCCAACCGGCGGGAGAAA	ENSP00000509666.1:p.Ala5435=
ENST00000301067.12:c.16306_16323delinsGCCAACCGGCGGGAGAAA MANE Select	ENSP00000301067.7:p.Ala5436=
ENST00000301067.11:c.16306_16323delinsGCCAACCGGCGGGAGAAA	ENSP00000301067.7:p.Ala5436=
ENST00000526209.1:c.349_366delinsGCCAACCGGCGGGAGAAA	ENSP00000435714.1:p.Ala117=
NM_003482.3:c.16306_16323delinsGCCAACCGGCGGGAGAAA	NP_003473.3:p.Ala5436=
XM_005269162.3:c.16306_16323delinsGCCAACCGGCGGGAGAAA	XP_005269219.1:p.Ala5436=
XM_006719614.2:c.16315_16332delinsGCCAACCGGCGGGAGAAA	XP_006719677.1:p.Ala5439=
XM_006719616.2:c.16303_16320delinsGCCAACCGGCGGGAGAAA	XP_006719679.1:p.Ala5435=
XM_011538770.1:c.16363_16380delinsGCCAACCGGCGGGAGAAA	XP_011537072.1:p.Ala5455=
XM_011538771.1:c.16360_16377delinsGCCAACCGGCGGGAGAAA	XP_011537073.1:p.Ala5454=
XM_011538772.1:c.16354_16371delinsGCCAACCGGCGGGAGAAA	XP_011537074.1:p.Ala5452=
XM_011538773.1:c.16351_16368delinsGCCAACCGGCGGGAGAAA	XP_011537075.1:p.Ala5451=
XM_011538774.1:c.16342_16359delinsGCCAACCGGCGGGAGAAA	XP_011537076.1:p.Ala5448=
XM_011538775.1:c.16297_16314delinsGCCAACCGGCGGGAGAAA	XP_011537077.1:p.Ala5433=
XM_011538776.1:c.16270_16287delinsGCCAACCGGCGGGAGAAA	XP_011537078.1:p.Ala5424=
XM_005269162.4:c.16306_16323delinsGCCAACCGGCGGGAGAAA	XP_005269219.1:p.Ala5436=
XM_006719614.4:c.16315_16332delinsGCCAACCGGCGGGAGAAA	XP_006719677.1:p.Ala5439=
XM_006719616.3:c.16303_16320delinsGCCAACCGGCGGGAGAAA	XP_006719679.1:p.Ala5435=
XM_011538770.2:c.16363_16380delinsGCCAACCGGCGGGAGAAA	XP_011537072.1:p.Ala5455=
XM_011538771.2:c.16360_16377delinsGCCAACCGGCGGGAGAAA	XP_011537073.1:p.Ala5454=
XM_011538772.2:c.16354_16371delinsGCCAACCGGCGGGAGAAA	XP_011537074.1:p.Ala5452=
XM_011538773.2:c.16351_16368delinsGCCAACCGGCGGGAGAAA	XP_011537075.1:p.Ala5451=
XM_011538774.2:c.16342_16359delinsGCCAACCGGCGGGAGAAA	XP_011537076.1:p.Ala5448=
XM_011538776.2:c.16270_16287delinsGCCAACCGGCGGGAGAAA	XP_011537078.1:p.Ala5424=
XR_001748874.1:n.16483_16500delinsGCCAACCGGCGGGAGAAA
NM_003482.4:c.16306_16323delinsGCCAACCGGCGGGAGAAA MANE Select	NP_003473.3:p.Ala5436=