Canonical Allele Identifier: CA658797809

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 521923
• ClinVar RCV Id: RCV000624286
• dbSNP Id: rs1555046615
• MyVariant Identifiers: chr11:g.118374104del (hg19) ; chr11:g.118503389del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503389del , CM000673.2:g.118503389del	GRCh38
NC_000011.9:g.118374104del , CM000673.1:g.118374104del	GRCh37
NC_000011.8:g.117879314del	NCBI36
NG_027813.1:g.71900del , LRG_613:g.71900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7596del	ENSP00000432391.3:p.Val2533SerfsTer9
ENST00000710560.1:c.7587del	ENSP00000518343.1:p.Val2530SerfsTer9
ENST00000649878.2:c.1536del	ENSP00000497891.2:p.Val513SerfsTer9
ENST00000685397.1:c.1536del	ENSP00000509586.1:p.Val513SerfsTer9
ENST00000686370.1:c.1536del	ENSP00000509179.1:p.Val513SerfsTer9
ENST00000689424.1:c.1794del	ENSP00000509852.1:p.Val599SerfsTer9
ENST00000691053.1:c.7569del	ENSP00000509168.1:p.Val2524SerfsTer9
ENST00000389506.10:c.7488del	ENSP00000374157.5:p.Val2497SerfsTer9
ENST00000528278.2:n.6839del
ENST00000534358.8:c.7497del MANE Select	ENSP00000436786.2:p.Val2500SerfsTer9
ENST00000649699.1:c.7374del	ENSP00000496927.1:p.Val2459SerfsTer9
ENST00000389506.9:c.7488del	ENSP00000374157.5:p.Val2497SerfsTer9
ENST00000528278.1:n.1624del
ENST00000534358.5:c.7497del	ENSP00000436786.1:p.Val2500SerfsTer9
NM_001197104.1:c.7497del , LRG_613t1:c.7497del	NP_001184033.1:p.Val2500SerfsTer9
NM_005933.3:c.7488del	NP_005924.2:p.Val2497SerfsTer9
XM_006718839.2:c.4980del	XP_006718902.2:p.Val1661SerfsTer9
XM_011542829.1:c.7596del	XP_011541131.1:p.Val2533SerfsTer9
XM_011542830.1:c.7593del	XP_011541132.1:p.Val2532SerfsTer9
XM_011542831.1:c.7587del	XP_011541133.1:p.Val2530SerfsTer9
XM_011542832.1:c.5403del	XP_011541134.1:p.Val1802SerfsTer9
XM_011542833.1:c.5079del	XP_011541135.1:p.Val1694SerfsTer9
XM_006718839.3:c.4980del	XP_006718902.2:p.Val1661SerfsTer9
XM_011542829.2:c.7596del	XP_011541131.1:p.Val2533SerfsTer9
XM_011542830.2:c.7593del	XP_011541132.1:p.Val2532SerfsTer9
XM_011542831.2:c.7587del	XP_011541133.1:p.Val2530SerfsTer9
XM_011542833.2:c.5079del	XP_011541135.1:p.Val1694SerfsTer9
NM_001197104.2:c.7497del MANE Select	NP_001184033.1:p.Val2500SerfsTer9
NM_005933.4:c.7488del	NP_005924.2:p.Val2497SerfsTer9