Canonical Allele Identifier: CA2618609554

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49042328-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042331del , CM000674.2:g.49042331del	GRCh38
NC_000012.11:g.49436114del , CM000674.1:g.49436114del	GRCh37
NC_000012.10:g.47722381del	NCBI36
NG_027827.1:g.17996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.680-20del
ENST00000683543.2:c.5869del
ENST00000685166.1:c.5878del
ENST00000692637.1:c.5866del
ENST00000301067.12:c.5869del
ENST00000301067.11:c.5869del
NM_003482.3:c.5869del
XM_005269162.3:c.5869del
XM_006719614.2:c.5878del
XM_006719616.2:c.5866del
XM_011538770.1:c.5878del
XM_011538771.1:c.5875del
XM_011538772.1:c.5869del
XM_011538773.1:c.5866del
XM_011538774.1:c.5877-20del	XP_011537076.1:n.5877-20del
XM_011538775.1:c.5878del
XM_011538776.1:c.5878del
XR_944740.1:n.8198del
XM_005269162.4:c.5869del
XM_006719614.4:c.5878del
XM_006719616.3:c.5866del
XM_011538770.2:c.5878del
XM_011538771.2:c.5875del
XM_011538772.2:c.5869del
XM_011538773.2:c.5866del
XM_011538774.2:c.5877-20del	XP_011537076.1:n.5877-20del
XM_011538776.2:c.5878del
XR_001748874.1:n.7187del
NM_003482.4:c.5869del