Canonical Allele Identifier: CA2695216351

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024809_49024812del , CM000674.2:g.49024809_49024812del	GRCh38
NC_000012.11:g.49418592_49418595del , CM000674.1:g.49418592_49418595del	GRCh37
NC_000012.10:g.47704859_47704862del	NCBI36
NG_027827.1:g.35514_35517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.592_593+2del
ENST00000683543.2:c.15920_15921+2del
ENST00000683863.1:n.1635_1636+2del
ENST00000684428.1:c.455_456+2del
ENST00000684755.1:n.455_456+2del
ENST00000685024.1:c.1045_1046+2del
ENST00000685166.1:c.15929_15930+2del
ENST00000688411.1:c.397_398+2del
ENST00000692637.1:c.15917_15918+2del
ENST00000301067.12:c.15920_15921+2del
ENST00000301067.11:c.15920_15921+2del
NM_003482.3:c.15920_15921+2del
XM_005269162.3:c.15920_15921+2del
XM_006719614.2:c.15929_15930+2del
XM_006719616.2:c.15917_15918+2del
XM_011538770.1:c.15929_15930+2del
XM_011538771.1:c.15926_15927+2del
XM_011538772.1:c.15920_15921+2del
XM_011538773.1:c.15917_15918+2del
XM_011538774.1:c.15908_15909+2del
XM_011538775.1:c.15863_15864+2del
XM_011538776.1:c.15836_15837+2del
XR_944740.1:n.17108_17109+2del
XM_005269162.4:c.15920_15921+2del
XM_006719614.4:c.15929_15930+2del
XM_006719616.3:c.15917_15918+2del
XM_011538770.2:c.15929_15930+2del
XM_011538771.2:c.15926_15927+2del
XM_011538772.2:c.15920_15921+2del
XM_011538773.2:c.15917_15918+2del
XM_011538774.2:c.15908_15909+2del
XM_011538776.2:c.15836_15837+2del
XR_001748874.1:n.16097_16098+2del
NM_003482.4:c.15920_15921+2del