Canonical Allele Identifier: CA2618607415

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49024799-CCCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024804_49024807del , CM000674.2:g.49024804_49024807del	GRCh38
NC_000012.11:g.49418587_49418590del , CM000674.1:g.49418587_49418590del	GRCh37
NC_000012.10:g.47704854_47704857del	NCBI36
NG_027827.1:g.35522_35525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.593+7_593+10del
ENST00000683543.2:c.15921+7_15921+10del	ENSP00000506726.1:n.15921+7_15921+10del
ENST00000683863.1:n.1636+7_1636+10del
ENST00000684428.1:c.456+7_456+10del	ENSP00000507433.1:n.456+7_456+10del
ENST00000684755.1:n.456+7_456+10del
ENST00000685024.1:c.1046+7_1046+10del
ENST00000685166.1:c.15930+7_15930+10del	ENSP00000509386.1:n.15930+7_15930+10del
ENST00000688411.1:c.398+7_398+10del	ENSP00000510146.1:n.398+7_398+10del
ENST00000692637.1:c.15918+7_15918+10del	ENSP00000509666.1:n.15918+7_15918+10del
ENST00000301067.12:c.15921+7_15921+10del MANE Select	ENSP00000301067.7:n.15921+7_15921+10del
ENST00000301067.11:c.15921+7_15921+10del	ENSP00000301067.7:n.15921+7_15921+10del
NM_003482.3:c.15921+7_15921+10del	NP_003473.3:n.15921+7_15921+10del
XM_005269162.3:c.15921+7_15921+10del	XP_005269219.1:n.15921+7_15921+10del
XM_006719614.2:c.15930+7_15930+10del	XP_006719677.1:n.15930+7_15930+10del
XM_006719616.2:c.15918+7_15918+10del	XP_006719679.1:n.15918+7_15918+10del
XM_011538770.1:c.15930+7_15930+10del	XP_011537072.1:n.15930+7_15930+10del
XM_011538771.1:c.15927+7_15927+10del	XP_011537073.1:n.15927+7_15927+10del
XM_011538772.1:c.15921+7_15921+10del	XP_011537074.1:n.15921+7_15921+10del
XM_011538773.1:c.15918+7_15918+10del	XP_011537075.1:n.15918+7_15918+10del
XM_011538774.1:c.15909+7_15909+10del	XP_011537076.1:n.15909+7_15909+10del
XM_011538775.1:c.15864+7_15864+10del	XP_011537077.1:n.15864+7_15864+10del
XM_011538776.1:c.15837+7_15837+10del	XP_011537078.1:n.15837+7_15837+10del
XR_944740.1:n.17109+7_17109+10del
XM_005269162.4:c.15921+7_15921+10del	XP_005269219.1:n.15921+7_15921+10del
XM_006719614.4:c.15930+7_15930+10del	XP_006719677.1:n.15930+7_15930+10del
XM_006719616.3:c.15918+7_15918+10del	XP_006719679.1:n.15918+7_15918+10del
XM_011538770.2:c.15930+7_15930+10del	XP_011537072.1:n.15930+7_15930+10del
XM_011538771.2:c.15927+7_15927+10del	XP_011537073.1:n.15927+7_15927+10del
XM_011538772.2:c.15921+7_15921+10del	XP_011537074.1:n.15921+7_15921+10del
XM_011538773.2:c.15918+7_15918+10del	XP_011537075.1:n.15918+7_15918+10del
XM_011538774.2:c.15909+7_15909+10del	XP_011537076.1:n.15909+7_15909+10del
XM_011538776.2:c.15837+7_15837+10del	XP_011537078.1:n.15837+7_15837+10del
XR_001748874.1:n.16098+7_16098+10del
NM_003482.4:c.15921+7_15921+10del MANE Select	NP_003473.3:n.15921+7_15921+10del