Canonical Allele Identifier: CA16619274
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 418816
ClinVar RCV Id: RCV000482954
dbSNP Id: rs1064793451

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118473507_118473508del , CM000673.2:g.118473507_118473508del GRCh38
NC_000011.9:g.118344222_118344223del , CM000673.1:g.118344222_118344223del GRCh37
NC_000011.8:g.117849432_117849433del NCBI36
NG_027813.1:g.42018_42019del , LRG_613:g.42018_42019del

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.2447_2448del ENSP00000432391.3:p.Ser816CysfsTer2
ENST00000710560.1:c.2447_2448del ENSP00000518343.1:p.Ser816CysfsTer2
ENST00000527869.7:c.602-672_602-671del ENSP00000432652.3:n.602-672_602-671del
ENST00000533790.3:c.503-672_503-671del ENSP00000436700.3:n.503-672_503-671del
ENST00000649690.2:c.827-672_827-671del ENSP00000497372.2:n.827-672_827-671del
ENST00000691053.1:c.2348_2349del ENSP00000509168.1:p.Ser783CysfsTer2
ENST00000389506.10:c.2348_2349del ENSP00000374157.5:p.Ser783CysfsTer2
ENST00000533790.2:c.272-672_272-671del ENSP00000436700.2:n.272-672_272-671del
ENST00000534358.8:c.2348_2349del MANE Select ENSP00000436786.2:p.Ser783CysfsTer2
ENST00000648261.1:c.1118_1119del ENSP00000498126.1:p.Ser373CysfsTer2
ENST00000649690.1:c.413-672_413-671del ENSP00000497372.1:n.413-672_413-671del
ENST00000649699.1:c.2348_2349del ENSP00000496927.1:p.Ser783CysfsTer2
ENST00000389506.9:c.2348_2349del ENSP00000374157.5:p.Ser783CysfsTer2
ENST00000527869.6:c.353-672_353-671del ENSP00000432652.2:n.353-672_353-671del
ENST00000531904.6:c.2447_2448del ENSP00000432391.2:p.Ser816CysfsTer2
ENST00000533790.1:c.254-672_254-671del ENSP00000436700.1:n.254-672_254-671del
ENST00000534358.5:c.2348_2349del ENSP00000436786.1:p.Ser783CysfsTer2
NM_001197104.1:c.2348_2349del , LRG_613t1:c.2348_2349del NP_001184033.1:p.Ser783CysfsTer2
NM_005933.3:c.2348_2349del NP_005924.2:p.Ser783CysfsTer2
XM_006718839.2:c.503-672_503-671del XP_006718902.2:n.503-672_503-671del
XM_011542829.1:c.2447_2448del XP_011541131.1:p.Ser816CysfsTer2
XM_011542830.1:c.2447_2448del XP_011541132.1:p.Ser816CysfsTer2
XM_011542831.1:c.2447_2448del XP_011541133.1:p.Ser816CysfsTer2
XM_011542832.1:c.926-672_926-671del XP_011541134.1:n.926-672_926-671del
XM_011542833.1:c.602-672_602-671del XP_011541135.1:n.602-672_602-671del
XM_006718839.3:c.503-672_503-671del XP_006718902.2:n.503-672_503-671del
XM_011542829.2:c.2447_2448del XP_011541131.1:p.Ser816CysfsTer2
XM_011542830.2:c.2447_2448del XP_011541132.1:p.Ser816CysfsTer2
XM_011542831.2:c.2447_2448del XP_011541133.1:p.Ser816CysfsTer2
XM_011542833.2:c.602-672_602-671del XP_011541135.1:n.602-672_602-671del
NM_001197104.2:c.2348_2349del MANE Select NP_001184033.1:p.Ser783CysfsTer2
NM_005933.4:c.2348_2349del NP_005924.2:p.Ser783CysfsTer2