Canonical Allele Identifier: CA2618608123

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49030975-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030976del , CM000674.2:g.49030976del	GRCh38
NC_000012.11:g.49424759del , CM000674.1:g.49424759del	GRCh37
NC_000012.10:g.47711026del	NCBI36
NG_027827.1:g.29349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.288del
ENST00000683543.2:c.13588del	ENSP00000506726.1:p.Asp4530ThrfsTer4
ENST00000685166.1:c.13597del	ENSP00000509386.1:p.Asp4533ThrfsTer4
ENST00000685982.1:c.138+199del	ENSP00000508613.1:n.138+199del
ENST00000691986.1:c.138+199del	ENSP00000509196.1:n.138+199del
ENST00000692637.1:c.13585del	ENSP00000509666.1:p.Asp4529ThrfsTer4
ENST00000692973.1:c.189del	ENSP00000508893.1:n.189del
ENST00000301067.12:c.13588del MANE Select	ENSP00000301067.7:p.Asp4530ThrfsTer4
ENST00000301067.11:c.13588del	ENSP00000301067.7:p.Asp4530ThrfsTer4
ENST00000552391.1:n.288del
NM_003482.3:c.13588del	NP_003473.3:p.Asp4530ThrfsTer4
XM_005269162.3:c.13588del	XP_005269219.1:p.Asp4530ThrfsTer4
XM_006719614.2:c.13597del	XP_006719677.1:p.Asp4533ThrfsTer4
XM_006719616.2:c.13585del	XP_006719679.1:p.Asp4529ThrfsTer4
XM_011538770.1:c.13597del	XP_011537072.1:p.Asp4533ThrfsTer4
XM_011538771.1:c.13594del	XP_011537073.1:p.Asp4532ThrfsTer4
XM_011538772.1:c.13588del	XP_011537074.1:p.Asp4530ThrfsTer4
XM_011538773.1:c.13585del	XP_011537075.1:p.Asp4529ThrfsTer4
XM_011538774.1:c.13576del	XP_011537076.1:p.Asp4526ThrfsTer4
XM_011538775.1:c.13597del	XP_011537077.1:p.Asp4533ThrfsTer4
XM_011538776.1:c.13504del	XP_011537078.1:p.Asp4502ThrfsTer4
XR_944740.1:n.15917del
XM_005269162.4:c.13588del	XP_005269219.1:p.Asp4530ThrfsTer4
XM_006719614.4:c.13597del	XP_006719677.1:p.Asp4533ThrfsTer4
XM_006719616.3:c.13585del	XP_006719679.1:p.Asp4529ThrfsTer4
XM_011538770.2:c.13597del	XP_011537072.1:p.Asp4533ThrfsTer4
XM_011538771.2:c.13594del	XP_011537073.1:p.Asp4532ThrfsTer4
XM_011538772.2:c.13588del	XP_011537074.1:p.Asp4530ThrfsTer4
XM_011538773.2:c.13585del	XP_011537075.1:p.Asp4529ThrfsTer4
XM_011538774.2:c.13576del	XP_011537076.1:p.Asp4526ThrfsTer4
XM_011538776.2:c.13504del	XP_011537078.1:p.Asp4502ThrfsTer4
XR_001748874.1:n.14906del
NM_003482.4:c.13588del MANE Select	NP_003473.3:p.Asp4530ThrfsTer4