Canonical Allele Identifier: CA2582342478

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 2584505
• ClinVar RCV Id: RCV003335945

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503445_118503457del , CM000673.2:g.118503445_118503457del	GRCh38
NC_000011.9:g.118374160_118374172del , CM000673.1:g.118374160_118374172del	GRCh37
NC_000011.8:g.117879370_117879382del	NCBI36
NG_027813.1:g.71956_71968del , LRG_613:g.71956_71968del

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7652_7664del	ENSP00000432391.3:p.Pro2551GlnfsTer4
ENST00000710560.1:c.7643_7655del	ENSP00000518343.1:p.Pro2548GlnfsTer4
ENST00000649878.2:c.1592_1604del	ENSP00000497891.2:p.Pro531GlnfsTer4
ENST00000685397.1:c.1592_1604del	ENSP00000509586.1:p.Pro531GlnfsTer4
ENST00000686370.1:c.1592_1604del	ENSP00000509179.1:p.Pro531GlnfsTer4
ENST00000689424.1:c.1850_1862del	ENSP00000509852.1:p.Pro617GlnfsTer4
ENST00000691053.1:c.7625_7637del	ENSP00000509168.1:p.Pro2542GlnfsTer4
ENST00000389506.10:c.7544_7556del	ENSP00000374157.5:p.Pro2515GlnfsTer4
ENST00000528278.2:n.6895_6907del
ENST00000534358.8:c.7553_7565del MANE Select	ENSP00000436786.2:p.Pro2518GlnfsTer4
ENST00000649699.1:c.7430_7442del	ENSP00000496927.1:p.Pro2477GlnfsTer4
ENST00000389506.9:c.7544_7556del	ENSP00000374157.5:p.Pro2515GlnfsTer4
ENST00000528278.1:n.1680_1692del
ENST00000534358.5:c.7553_7565del	ENSP00000436786.1:p.Pro2518GlnfsTer4
NM_001197104.1:c.7553_7565del , LRG_613t1:c.7553_7565del	NP_001184033.1:p.Pro2518GlnfsTer4
NM_005933.3:c.7544_7556del	NP_005924.2:p.Pro2515GlnfsTer4
XM_006718839.2:c.5036_5048del	XP_006718902.2:p.Pro1679GlnfsTer4
XM_011542829.1:c.7652_7664del	XP_011541131.1:p.Pro2551GlnfsTer4
XM_011542830.1:c.7649_7661del	XP_011541132.1:p.Pro2550GlnfsTer4
XM_011542831.1:c.7643_7655del	XP_011541133.1:p.Pro2548GlnfsTer4
XM_011542832.1:c.5459_5471del	XP_011541134.1:p.Pro1820GlnfsTer4
XM_011542833.1:c.5135_5147del	XP_011541135.1:p.Pro1712GlnfsTer4
XM_006718839.3:c.5036_5048del	XP_006718902.2:p.Pro1679GlnfsTer4
XM_011542829.2:c.7652_7664del	XP_011541131.1:p.Pro2551GlnfsTer4
XM_011542830.2:c.7649_7661del	XP_011541132.1:p.Pro2550GlnfsTer4
XM_011542831.2:c.7643_7655del	XP_011541133.1:p.Pro2548GlnfsTer4
XM_011542833.2:c.5135_5147del	XP_011541135.1:p.Pro1712GlnfsTer4
NM_001197104.2:c.7553_7565del MANE Select	NP_001184033.1:p.Pro2518GlnfsTer4
NM_005933.4:c.7544_7556del	NP_005924.2:p.Pro2515GlnfsTer4