Canonical Allele Identifier: CA2725086118

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134391607

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503274_118503275insGCCATTAGAAAAAAAAAAAAAA , CM000673.2:g.118503274_118503275insGCCATTAGAAAAAAAAAAAAAA	GRCh38
NC_000011.9:g.118373989_118373990insGCCATTAGAAAAAAAAAAAAAA , CM000673.1:g.118373989_118373990insGCCATTAGAAAAAAAAAAAAAA	GRCh37
NC_000011.8:g.117879199_117879200insGCCATTAGAAAAAAAAAAAAAA	NCBI36
NG_027813.1:g.71785_71786insGCCATTAGAAAAAAAAAAAAAA , LRG_613:g.71785_71786insGCCATTAGAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7481_7482insGCCATTAGAAAAAAAAAAAAAA	ENSP00000432391.3:p.Asn2495ProfsTer16
ENST00000710560.1:c.7472_7473insGCCATTAGAAAAAAAAAAAAAA	ENSP00000518343.1:p.Asn2492ProfsTer16
ENST00000649878.2:c.1421_1422insGCCATTAGAAAAAAAAAAAAAA	ENSP00000497891.2:p.Asn475ProfsTer16
ENST00000685397.1:c.1421_1422insGCCATTAGAAAAAAAAAAAAAA	ENSP00000509586.1:p.Asn475ProfsTer16
ENST00000686370.1:c.1421_1422insGCCATTAGAAAAAAAAAAAAAA	ENSP00000509179.1:p.Asn475ProfsTer16
ENST00000689424.1:c.1679_1680insGCCATTAGAAAAAAAAAAAAAA	ENSP00000509852.1:p.Asn561ProfsTer16
ENST00000691053.1:c.7454_7455insGCCATTAGAAAAAAAAAAAAAA	ENSP00000509168.1:p.Asn2486ProfsTer16
ENST00000389506.10:c.7373_7374insGCCATTAGAAAAAAAAAAAAAA	ENSP00000374157.5:p.Asn2459ProfsTer16
ENST00000528278.2:n.6724_6725insGCCATTAGAAAAAAAAAAAAAA
ENST00000534358.8:c.7382_7383insGCCATTAGAAAAAAAAAAAAAA MANE Select	ENSP00000436786.2:p.Asn2462ProfsTer16
ENST00000649699.1:c.7259_7260insGCCATTAGAAAAAAAAAAAAAA	ENSP00000496927.1:p.Asn2421ProfsTer16
ENST00000389506.9:c.7373_7374insGCCATTAGAAAAAAAAAAAAAA	ENSP00000374157.5:p.Asn2459ProfsTer16
ENST00000528278.1:n.1509_1510insGCCATTAGAAAAAAAAAAAAAA
ENST00000534358.5:c.7382_7383insGCCATTAGAAAAAAAAAAAAAA	ENSP00000436786.1:p.Asn2462ProfsTer16
NM_001197104.1:c.7382_7383insGCCATTAGAAAAAAAAAAAAAA , LRG_613t1:c.7382_7383insGCCATTAGAAAAAAAAAAAAAA	NP_001184033.1:p.Asn2462ProfsTer16
NM_005933.3:c.7373_7374insGCCATTAGAAAAAAAAAAAAAA	NP_005924.2:p.Asn2459ProfsTer16
XM_006718839.2:c.4865_4866insGCCATTAGAAAAAAAAAAAAAA	XP_006718902.2:p.Asn1623ProfsTer16
XM_011542829.1:c.7481_7482insGCCATTAGAAAAAAAAAAAAAA	XP_011541131.1:p.Asn2495ProfsTer16
XM_011542830.1:c.7478_7479insGCCATTAGAAAAAAAAAAAAAA	XP_011541132.1:p.Asn2494ProfsTer16
XM_011542831.1:c.7472_7473insGCCATTAGAAAAAAAAAAAAAA	XP_011541133.1:p.Asn2492ProfsTer16
XM_011542832.1:c.5288_5289insGCCATTAGAAAAAAAAAAAAAA	XP_011541134.1:p.Asn1764ProfsTer16
XM_011542833.1:c.4964_4965insGCCATTAGAAAAAAAAAAAAAA	XP_011541135.1:p.Asn1656ProfsTer16
XM_006718839.3:c.4865_4866insGCCATTAGAAAAAAAAAAAAAA	XP_006718902.2:p.Asn1623ProfsTer16
XM_011542829.2:c.7481_7482insGCCATTAGAAAAAAAAAAAAAA	XP_011541131.1:p.Asn2495ProfsTer16
XM_011542830.2:c.7478_7479insGCCATTAGAAAAAAAAAAAAAA	XP_011541132.1:p.Asn2494ProfsTer16
XM_011542831.2:c.7472_7473insGCCATTAGAAAAAAAAAAAAAA	XP_011541133.1:p.Asn2492ProfsTer16
XM_011542833.2:c.4964_4965insGCCATTAGAAAAAAAAAAAAAA	XP_011541135.1:p.Asn1656ProfsTer16
NM_001197104.2:c.7382_7383insGCCATTAGAAAAAAAAAAAAAA MANE Select	NP_001184033.1:p.Asn2462ProfsTer16
NM_005933.4:c.7373_7374insGCCATTAGAAAAAAAAAAAAAA	NP_005924.2:p.Asn2459ProfsTer16