Canonical Allele Identifier: CA2695216350

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024805_49024815del , CM000674.2:g.49024805_49024815del	GRCh38
NC_000012.11:g.49418588_49418598del , CM000674.1:g.49418588_49418598del	GRCh37
NC_000012.10:g.47704855_47704865del	NCBI36
NG_027827.1:g.35513_35523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.591_593+8del
ENST00000683543.2:c.15919_15921+8del
ENST00000683863.1:n.1634_1636+8del
ENST00000684428.1:c.454_456+8del
ENST00000684755.1:n.454_456+8del
ENST00000685024.1:c.1044_1046+8del
ENST00000685166.1:c.15928_15930+8del
ENST00000688411.1:c.396_398+8del
ENST00000692637.1:c.15916_15918+8del
ENST00000301067.12:c.15919_15921+8del
ENST00000301067.11:c.15919_15921+8del
NM_003482.3:c.15919_15921+8del
XM_005269162.3:c.15919_15921+8del
XM_006719614.2:c.15928_15930+8del
XM_006719616.2:c.15916_15918+8del
XM_011538770.1:c.15928_15930+8del
XM_011538771.1:c.15925_15927+8del
XM_011538772.1:c.15919_15921+8del
XM_011538773.1:c.15916_15918+8del
XM_011538774.1:c.15907_15909+8del
XM_011538775.1:c.15862_15864+8del
XM_011538776.1:c.15835_15837+8del
XR_944740.1:n.17107_17109+8del
XM_005269162.4:c.15919_15921+8del
XM_006719614.4:c.15928_15930+8del
XM_006719616.3:c.15916_15918+8del
XM_011538770.2:c.15928_15930+8del
XM_011538771.2:c.15925_15927+8del
XM_011538772.2:c.15919_15921+8del
XM_011538773.2:c.15916_15918+8del
XM_011538774.2:c.15907_15909+8del
XM_011538776.2:c.15835_15837+8del
XR_001748874.1:n.16096_16098+8del
NM_003482.4:c.15919_15921+8del