Canonical Allele Identifier: CA577197557

Gene: KMT2E SRPK2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105112643_105112648dup , CM000669.2:g.105112643_105112648dup	GRCh38
NC_000007.13:g.104753090_104753095dup , CM000669.1:g.104753090_104753095dup	GRCh37
NC_000007.12:g.104540326_104540331dup	NCBI36
NG_033949.1:g.103454_103459dup

Transcript Alleles

HGVS	Amino-acid Change
NM_182931.3:c.4887_4892dup (KMT2E) MANE Select	NP_891847.1:p.Pro1631_Pro1632insProPro
ENST00000311117.8:c.4887_4892dup (KMT2E) MANE Select	ENSP00000312379.3:p.Pro1631_Pro1632insProPro
NM_018682.3:c.4887_4892dup (KMT2E)	NP_061152.3:p.Pro1631_Pro1632insProPro
NM_018682.4:c.4887_4892dup (KMT2E)	NP_061152.3:p.Pro1631_Pro1632insProPro
NM_182931.2:c.4887_4892dup (KMT2E)	NP_891847.1:p.Pro1631_Pro1632insProPro
ENST00000257745.8:c.4887_4892dup (KMT2E)	ENSP00000257745.4:p.Pro1631_Pro1632insProPro
ENST00000257745.9:c.*3526_*3531dup (KMT2E)	ENSP00000257745.5:n.*3526_*3531dup
ENST00000311117.7:c.4887_4892dup (KMT2E)	ENSP00000312379.3:p.Pro1631_Pro1632insProPro
ENST00000334884.9:c.*1990_*1995dup (KMT2E)	ENSP00000335398.5:n.*1990_*1995dup
ENST00000334914.11:c.4647_4652dup (KMT2E)	ENSP00000333986.8:p.Pro1551_Pro1552insProPro
ENST00000473063.2:c.4761_4766dup (KMT2E)	ENSP00000417156.2:p.Pro1589_Pro1590insProPro
ENST00000478079.2:c.*1492_*1497dup (KMT2E)	ENSP00000419525.2:n.*1492_*1497dup
ENST00000493638.1:n.231-1455_231-1450dup (SRPK2)
XM_005250493.1:c.4887_4892dup (KMT2E)	XP_005250550.1:p.Pro1631_Pro1632insProPro
XM_006716049.1:c.4761_4766dup (KMT2E)	XP_006716112.1:p.Pro1589_Pro1590insProPro
XM_011516400.1:c.4887_4892dup (KMT2E)	XP_011514702.1:p.Pro1631_Pro1632insProPro
XM_011516400.2:c.4887_4892dup (KMT2E)	XP_011514702.1:p.Pro1631_Pro1632insProPro
XM_017012435.2:c.4449_4454dup (KMT2E)	XP_016867924.1:p.Pro1485_Pro1486insProPro
XM_024446837.1:c.4887_4892dup (KMT2E)	XP_024302605.1:p.Pro1631_Pro1632insProPro
XR_001744860.2:n.2929-1455_2929-1450dup (SRPK2)