Canonical Allele Identifier: CA2695216466

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042644_49042646delinsT , CM000674.2:g.49042644_49042646delinsT	GRCh38
NC_000012.11:g.49436427_49436429delinsT , CM000674.1:g.49436427_49436429delinsT	GRCh37
NC_000012.10:g.47722694_47722696delinsT	NCBI36
NG_027827.1:g.17679_17681delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.595-1_596delinsA
ENST00000683543.2:c.5783-1_5784delinsA
ENST00000685166.1:c.5792-1_5793delinsA
ENST00000688095.1:c.1732-1_1733delinsA
ENST00000692637.1:c.5780-1_5781delinsA
ENST00000301067.12:c.5783-1_5784delinsA
ENST00000301067.11:c.5783-1_5784delinsA
NM_003482.3:c.5783-1_5784delinsA
XM_005269162.3:c.5783-1_5784delinsA
XM_006719614.2:c.5792-1_5793delinsA
XM_006719616.2:c.5780-1_5781delinsA
XM_011538770.1:c.5792-1_5793delinsA
XM_011538771.1:c.5789-1_5790delinsA
XM_011538772.1:c.5783-1_5784delinsA
XM_011538773.1:c.5780-1_5781delinsA
XM_011538774.1:c.5792-1_5793delinsA
XM_011538775.1:c.5792-1_5793delinsA
XM_011538776.1:c.5792-1_5793delinsA
XR_944740.1:n.8112-1_8113delinsA
XM_005269162.4:c.5783-1_5784delinsA
XM_006719614.4:c.5792-1_5793delinsA
XM_006719616.3:c.5780-1_5781delinsA
XM_011538770.2:c.5792-1_5793delinsA
XM_011538771.2:c.5789-1_5790delinsA
XM_011538772.2:c.5783-1_5784delinsA
XM_011538773.2:c.5780-1_5781delinsA
XM_011538774.2:c.5792-1_5793delinsA
XM_011538776.2:c.5792-1_5793delinsA
XR_001748874.1:n.7101-1_7102delinsA
NM_003482.4:c.5783-1_5784delinsA