Canonical Allele Identifier: CA1139662644

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 981720
• ClinVar RCV Id: RCV001261264

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040811_49045663del , CM000674.2:g.49040811_49045663del	GRCh38
NC_000012.11:g.49434594_49439446del , CM000674.1:g.49434594_49439446del	GRCh37
NC_000012.10:g.47720861_47725713del	NCBI36
NG_027827.1:g.14662_19514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.4741+257_6959del
ENST00000685166.1:c.4741+257_6968del
ENST00000692637.1:c.4738+257_6956del
ENST00000301067.12:c.4741+257_6959del
ENST00000301067.11:c.4741+257_6959del
NM_003482.3:c.4741+257_6959del
XM_005269162.3:c.4741+257_6959del
XM_006719614.2:c.4741+257_6968del
XM_006719616.2:c.4738+257_6956del
XM_011538770.1:c.4741+257_6968del
XM_011538771.1:c.4738+257_6965del
XM_011538772.1:c.4741+257_6959del
XM_011538773.1:c.4738+257_6956del
XM_011538774.1:c.4741+257_6947del
XM_011538775.1:c.4741+257_6968del
XM_011538776.1:c.4741+257_6875del
XR_944740.1:n.7061+257_9288del
XM_005269162.4:c.4741+257_6959del
XM_006719614.4:c.4741+257_6968del
XM_006719616.3:c.4738+257_6956del
XM_011538770.2:c.4741+257_6968del
XM_011538771.2:c.4738+257_6965del
XM_011538772.2:c.4741+257_6959del
XM_011538773.2:c.4738+257_6956del
XM_011538774.2:c.4741+257_6947del
XM_011538776.2:c.4741+257_6875del
XR_001748874.1:n.6050+257_8277del
NM_003482.4:c.4741+257_6959del