Canonical Allele Identifier: CA2618605787

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49022588-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022590del , CM000674.2:g.49022590del	GRCh38
NC_000012.11:g.49416373del , CM000674.1:g.49416373del	GRCh37
NC_000012.10:g.47702640del	NCBI36
NG_027827.1:g.37736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.308+1del
ENST00000681974.1:n.1010+1del
ENST00000682693.1:n.1972+1del
ENST00000682886.1:n.509del
ENST00000683543.2:c.16386+1del
ENST00000683988.1:c.309+1del
ENST00000684428.1:c.873+1del
ENST00000684755.1:n.922del
ENST00000685024.1:c.1492+1del
ENST00000685166.1:c.16347+1del
ENST00000691932.1:c.339+1del
ENST00000692637.1:c.16335+1del
ENST00000301067.12:c.16338+1del
ENST00000301067.11:c.16338+1del
ENST00000526209.1:c.381+1del
NM_003482.3:c.16338+1del
XM_005269162.3:c.16338+1del
XM_006719614.2:c.16347+1del
XM_006719616.2:c.16335+1del
XM_011538770.1:c.16395+1del
XM_011538771.1:c.16392+1del
XM_011538772.1:c.16386+1del
XM_011538773.1:c.16383+1del
XM_011538774.1:c.16374+1del
XM_011538775.1:c.16329+1del
XM_011538776.1:c.16302+1del
XM_005269162.4:c.16338+1del
XM_006719614.4:c.16347+1del
XM_006719616.3:c.16335+1del
XM_011538770.2:c.16395+1del
XM_011538771.2:c.16392+1del
XM_011538772.2:c.16386+1del
XM_011538773.2:c.16383+1del
XM_011538774.2:c.16374+1del
XM_011538776.2:c.16302+1del
XR_001748874.1:n.16515+1del
NM_003482.4:c.16338+1del