Canonical Allele Identifier: CA2695216770

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030980del , CM000674.2:g.49030980del	GRCh38
NC_000012.11:g.49424763del , CM000674.1:g.49424763del	GRCh37
NC_000012.10:g.47711030del	NCBI36
NG_027827.1:g.29346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.285del
ENST00000683543.2:c.13585del	ENSP00000506726.1:p.Ser4529AlafsTer5
ENST00000685166.1:c.13594del	ENSP00000509386.1:p.Ser4532AlafsTer5
ENST00000685982.1:c.138+196del	ENSP00000508613.1:n.138+196del
ENST00000691986.1:c.138+196del	ENSP00000509196.1:n.138+196del
ENST00000692637.1:c.13582del	ENSP00000509666.1:p.Ser4528AlafsTer5
ENST00000692973.1:c.186del	ENSP00000508893.1:n.186del
ENST00000301067.12:c.13585del MANE Select	ENSP00000301067.7:p.Ser4529AlafsTer5
ENST00000301067.11:c.13585del	ENSP00000301067.7:p.Ser4529AlafsTer5
ENST00000552391.1:n.285del
NM_003482.3:c.13585del	NP_003473.3:p.Ser4529AlafsTer5
XM_005269162.3:c.13585del	XP_005269219.1:p.Ser4529AlafsTer5
XM_006719614.2:c.13594del	XP_006719677.1:p.Ser4532AlafsTer5
XM_006719616.2:c.13582del	XP_006719679.1:p.Ser4528AlafsTer5
XM_011538770.1:c.13594del	XP_011537072.1:p.Ser4532AlafsTer5
XM_011538771.1:c.13591del	XP_011537073.1:p.Ser4531AlafsTer5
XM_011538772.1:c.13585del	XP_011537074.1:p.Ser4529AlafsTer5
XM_011538773.1:c.13582del	XP_011537075.1:p.Ser4528AlafsTer5
XM_011538774.1:c.13573del	XP_011537076.1:p.Ser4525AlafsTer5
XM_011538775.1:c.13594del	XP_011537077.1:p.Ser4532AlafsTer5
XM_011538776.1:c.13501del	XP_011537078.1:p.Ser4501AlafsTer5
XR_944740.1:n.15914del
XM_005269162.4:c.13585del	XP_005269219.1:p.Ser4529AlafsTer5
XM_006719614.4:c.13594del	XP_006719677.1:p.Ser4532AlafsTer5
XM_006719616.3:c.13582del	XP_006719679.1:p.Ser4528AlafsTer5
XM_011538770.2:c.13594del	XP_011537072.1:p.Ser4532AlafsTer5
XM_011538771.2:c.13591del	XP_011537073.1:p.Ser4531AlafsTer5
XM_011538772.2:c.13585del	XP_011537074.1:p.Ser4529AlafsTer5
XM_011538773.2:c.13582del	XP_011537075.1:p.Ser4528AlafsTer5
XM_011538774.2:c.13573del	XP_011537076.1:p.Ser4525AlafsTer5
XM_011538776.2:c.13501del	XP_011537078.1:p.Ser4501AlafsTer5
XR_001748874.1:n.14903del
NM_003482.4:c.13585del MANE Select	NP_003473.3:p.Ser4529AlafsTer5