Canonical Allele Identifier: CA916084251

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 862877
• ClinVar RCV Id: RCV001069705

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49025253_49030915del , CM000674.2:g.49025253_49030915del	GRCh38
NC_000012.11:g.49419036_49424698del , CM000674.1:g.49419036_49424698del	GRCh37
NC_000012.10:g.47705303_47710965del	NCBI36
NG_027827.1:g.29412_35074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.13651_15785-305del
ENST00000685166.1:c.13660_15794-305del
ENST00000692637.1:c.13648_15782-305del
ENST00000301067.12:c.13651_15785-305del
ENST00000301067.11:c.13651_15785-305del
NM_003482.3:c.13651_15785-305del
XM_005269162.3:c.13651_15785-305del
XM_006719614.2:c.13660_15794-305del
XM_006719616.2:c.13648_15782-305del
XM_011538770.1:c.13660_15794-305del
XM_011538771.1:c.13657_15791-305del
XM_011538772.1:c.13651_15785-305del
XM_011538773.1:c.13648_15782-305del
XM_011538774.1:c.13639_15773-305del
XM_011538775.1:c.13660_15728-305del
XM_011538776.1:c.13567_15701-305del
XR_944740.1:n.15980_16973-305del
XM_005269162.4:c.13651_15785-305del
XM_006719614.4:c.13660_15794-305del
XM_006719616.3:c.13648_15782-305del
XM_011538770.2:c.13660_15794-305del
XM_011538771.2:c.13657_15791-305del
XM_011538772.2:c.13651_15785-305del
XM_011538773.2:c.13648_15782-305del
XM_011538774.2:c.13639_15773-305del
XM_011538776.2:c.13567_15701-305del
XR_001748874.1:n.14969_15962-305del
NM_003482.4:c.13651_15785-305del