Canonical Allele Identifier: CA577197469

Gene: KMT2E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105108962dup , CM000669.2:g.105108962dup	GRCh38
NC_000007.13:g.104749409dup , CM000669.1:g.104749409dup	GRCh37
NC_000007.12:g.104536645dup	NCBI36
NG_033949.1:g.99773dup

Transcript Alleles

HGVS	Amino-acid Change
NM_182931.3:c.3489dup MANE Select	NP_891847.1:p.Lys1164Ter
ENST00000311117.8:c.3489dup MANE Select	ENSP00000312379.3:p.Lys1164Ter
NM_018682.3:c.3489dup	NP_061152.3:p.Lys1164Ter
NM_018682.4:c.3489dup	NP_061152.3:p.Lys1164Ter
NM_182931.2:c.3489dup	NP_891847.1:p.Lys1164Ter
ENST00000257745.8:c.3489dup	ENSP00000257745.4:p.Lys1164Ter
ENST00000257745.9:c.*2128dup	ENSP00000257745.5:n.*2128dup
ENST00000311117.7:c.3489dup	ENSP00000312379.3:p.Lys1164Ter
ENST00000334884.9:c.*592dup	ENSP00000335398.5:n.*592dup
ENST00000334914.11:c.3249dup	ENSP00000333986.8:p.Lys1084Ter
ENST00000473063.2:c.3489dup	ENSP00000417156.2:p.Lys1164Ter
ENST00000478079.1:c.162dup
ENST00000478079.2:c.*97dup	ENSP00000419525.2:n.*97dup
XM_005250493.1:c.3489dup	XP_005250550.1:p.Lys1164Ter
XM_006716049.1:c.3489dup	XP_006716112.1:p.Lys1164Ter
XM_011516400.1:c.3489dup	XP_011514702.1:p.Lys1164Ter
XM_011516400.2:c.3489dup	XP_011514702.1:p.Lys1164Ter
XM_017012435.2:c.3051dup	XP_016867924.1:p.Lys1018Ter
XM_024446837.1:c.3489dup	XP_024302605.1:p.Lys1164Ter
XR_001744836.2:n.4058dup
XR_927489.1:n.4123dup