Canonical Allele Identifier: CA2825002085

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49052919_49052950dup , CM000674.2:g.49052919_49052950dup	GRCh38
NC_000012.11:g.49446702_49446733dup , CM000674.1:g.49446702_49446733dup	GRCh37
NC_000012.10:g.47732969_47733000dup	NCBI36
NG_027827.1:g.7375_7406dup

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.1077_1108dup MANE Select	NP_003473.3:p.Ser370ThrfsTer?
ENST00000301067.12:c.1077_1108dup MANE Select	ENSP00000301067.7:p.Ser370ThrfsTer?
NM_003482.3:c.1077_1108dup	NP_003473.3:p.Ser370ThrfsTer?
ENST00000301067.11:c.1077_1108dup	ENSP00000301067.7:p.Ser370ThrfsTer?
ENST00000683543.2:c.1077_1108dup	ENSP00000506726.1:p.Ser370ThrfsTer?
ENST00000685166.1:c.1077_1108dup	ENSP00000509386.1:p.Ser370ThrfsTer?
ENST00000686968.1:c.567_598dup	ENSP00000509151.1:p.Ser200ThrfsTer?
ENST00000692465.1:c.*421_*452dup	ENSP00000508680.1:n.*421_*452dup
ENST00000692637.1:c.1077_1108dup	ENSP00000509666.1:p.Ser370ThrfsTer?
XM_005269162.3:c.1077_1108dup	XP_005269219.1:p.Ser370ThrfsTer?
XM_005269162.4:c.1077_1108dup	XP_005269219.1:p.Ser370ThrfsTer?
XM_006719614.2:c.1077_1108dup	XP_006719677.1:p.Ser370ThrfsTer?
XM_006719614.4:c.1077_1108dup	XP_006719677.1:p.Ser370ThrfsTer?
XM_006719616.2:c.1077_1108dup	XP_006719679.1:p.Ser370ThrfsTer?
XM_006719616.3:c.1077_1108dup	XP_006719679.1:p.Ser370ThrfsTer?
XM_011538770.1:c.1077_1108dup	XP_011537072.1:p.Ser370ThrfsTer?
XM_011538770.2:c.1077_1108dup	XP_011537072.1:p.Ser370ThrfsTer?
XM_011538771.1:c.1077_1108dup	XP_011537073.1:p.Ser370ThrfsTer?
XM_011538771.2:c.1077_1108dup	XP_011537073.1:p.Ser370ThrfsTer?
XM_011538772.1:c.1077_1108dup	XP_011537074.1:p.Ser370ThrfsTer?
XM_011538772.2:c.1077_1108dup	XP_011537074.1:p.Ser370ThrfsTer?
XM_011538773.1:c.1077_1108dup	XP_011537075.1:p.Ser370ThrfsTer?
XM_011538773.2:c.1077_1108dup	XP_011537075.1:p.Ser370ThrfsTer?
XM_011538774.1:c.1077_1108dup	XP_011537076.1:p.Ser370ThrfsTer?
XM_011538774.2:c.1077_1108dup	XP_011537076.1:p.Ser370ThrfsTer?
XM_011538775.1:c.1077_1108dup	XP_011537077.1:p.Ser370ThrfsTer?
XM_011538776.1:c.1077_1108dup	XP_011537078.1:p.Ser370ThrfsTer?
XM_011538776.2:c.1077_1108dup	XP_011537078.1:p.Ser370ThrfsTer?
XR_001748874.1:n.2386_2417dup
XR_944740.1:n.3397_3428dup