Canonical Allele Identifier: CA2580617061

Gene: KMT2E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105106534_105106536del , CM000669.2:g.105106534_105106536del	GRCh38
NC_000007.13:g.104746981_104746983del , CM000669.1:g.104746981_104746983del	GRCh37
NC_000007.12:g.104534217_104534219del	NCBI36
NG_033949.1:g.97345_97347del

Transcript Alleles

HGVS	Amino-acid Change
NM_182931.3:c.2609_2611del MANE Select	NP_891847.1:p.Pro870del
ENST00000311117.8:c.2609_2611del MANE Select	ENSP00000312379.3:p.Pro870del
NM_018682.3:c.2609_2611del	NP_061152.3:p.Pro870del
NM_018682.4:c.2609_2611del	NP_061152.3:p.Pro870del
NM_182931.2:c.2609_2611del	NP_891847.1:p.Pro870del
ENST00000257745.8:c.2609_2611del	ENSP00000257745.4:p.Pro870del
ENST00000257745.9:c.*1248_*1250del	ENSP00000257745.5:n.*1248_*1250del
ENST00000311117.7:c.2609_2611del	ENSP00000312379.3:p.Pro870del
ENST00000334884.9:c.2548+579_2548+581del	ENSP00000335398.5:n.2548+579_2548+581del
ENST00000334914.11:c.2369_2371del	ENSP00000333986.8:p.Pro790del
ENST00000473063.2:c.2609_2611del	ENSP00000417156.2:p.Pro870del
ENST00000478079.2:c.2609_2611del	ENSP00000419525.2:p.Pro870del
XM_005250493.1:c.2609_2611del	XP_005250550.1:p.Pro870del
XM_006716049.1:c.2609_2611del	XP_006716112.1:p.Pro870del
XM_011516400.1:c.2609_2611del	XP_011514702.1:p.Pro870del
XM_011516400.2:c.2609_2611del	XP_011514702.1:p.Pro870del
XM_017012435.2:c.2171_2173del	XP_016867924.1:p.Pro724del
XM_024446837.1:c.2609_2611del	XP_024302605.1:p.Pro870del
XR_001744836.2:n.3063_3065del
XR_927489.1:n.3128_3130del