Canonical Allele Identifier: CA915947783

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 817708
• ClinVar RCV Id: RCV001008918
• dbSNP Id: rs1591281736

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503241del , CM000673.2:g.118503241del	GRCh38
NC_000011.9:g.118373956del , CM000673.1:g.118373956del	GRCh37
NC_000011.8:g.117879166del	NCBI36
NG_027813.1:g.71752del , LRG_613:g.71752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7448del	ENSP00000432391.3:p.Leu2483TrpfsTer6
ENST00000710560.1:c.7439del	ENSP00000518343.1:p.Leu2480TrpfsTer6
ENST00000649878.2:c.1388del	ENSP00000497891.2:p.Leu463TrpfsTer6
ENST00000685397.1:c.1388del	ENSP00000509586.1:p.Leu463TrpfsTer6
ENST00000686370.1:c.1388del	ENSP00000509179.1:p.Leu463TrpfsTer6
ENST00000689424.1:c.1646del	ENSP00000509852.1:p.Leu549TrpfsTer6
ENST00000691053.1:c.7421del	ENSP00000509168.1:p.Leu2474TrpfsTer6
ENST00000389506.10:c.7340del	ENSP00000374157.5:p.Leu2447TrpfsTer6
ENST00000528278.2:n.6691del
ENST00000534358.8:c.7349del MANE Select	ENSP00000436786.2:p.Leu2450TrpfsTer6
ENST00000649699.1:c.7226del	ENSP00000496927.1:p.Leu2409TrpfsTer6
ENST00000389506.9:c.7340del	ENSP00000374157.5:p.Leu2447TrpfsTer6
ENST00000528278.1:n.1476del
ENST00000534358.5:c.7349del	ENSP00000436786.1:p.Leu2450TrpfsTer6
NM_001197104.1:c.7349del , LRG_613t1:c.7349del	NP_001184033.1:p.Leu2450TrpfsTer6
NM_005933.3:c.7340del	NP_005924.2:p.Leu2447TrpfsTer6
XM_006718839.2:c.4832del	XP_006718902.2:p.Leu1611TrpfsTer6
XM_011542829.1:c.7448del	XP_011541131.1:p.Leu2483TrpfsTer6
XM_011542830.1:c.7445del	XP_011541132.1:p.Leu2482TrpfsTer6
XM_011542831.1:c.7439del	XP_011541133.1:p.Leu2480TrpfsTer6
XM_011542832.1:c.5255del	XP_011541134.1:p.Leu1752TrpfsTer6
XM_011542833.1:c.4931del	XP_011541135.1:p.Leu1644TrpfsTer6
XM_006718839.3:c.4832del	XP_006718902.2:p.Leu1611TrpfsTer6
XM_011542829.2:c.7448del	XP_011541131.1:p.Leu2483TrpfsTer6
XM_011542830.2:c.7445del	XP_011541132.1:p.Leu2482TrpfsTer6
XM_011542831.2:c.7439del	XP_011541133.1:p.Leu2480TrpfsTer6
XM_011542833.2:c.4931del	XP_011541135.1:p.Leu1644TrpfsTer6
NM_001197104.2:c.7349del MANE Select	NP_001184033.1:p.Leu2450TrpfsTer6
NM_005933.4:c.7340del	NP_005924.2:p.Leu2447TrpfsTer6