Canonical Allele Identifier: CA915947810
Community Standard Title: NM_001197104.2(KMT2A):c.1470_1471del (p.Gln491GlyfsTer3)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118472629_118472630del , CM000673.2:g.118472629_118472630del GRCh38
NC_000011.9:g.118343344_118343345del , CM000673.1:g.118343344_118343345del GRCh37
NC_000011.8:g.117848554_117848555del NCBI36
NG_027813.1:g.41140_41141del , LRG_613:g.41140_41141del

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.1470_1471del MANE Select NP_001184033.1:p.Gln491GlyfsTer3
ENST00000534358.8:c.1470_1471del MANE Select ENSP00000436786.2:p.Gln491GlyfsTer3
NM_001197104.1:c.1470_1471del , LRG_613t1:c.1470_1471del NP_001184033.1:p.Gln491GlyfsTer3
NM_005933.3:c.1470_1471del NP_005924.2:p.Gln491GlyfsTer3
NM_005933.4:c.1470_1471del NP_005924.2:p.Gln491GlyfsTer3
ENST00000389506.10:c.1470_1471del ENSP00000374157.5:p.Gln491GlyfsTer3
ENST00000389506.9:c.1470_1471del ENSP00000374157.5:p.Gln491GlyfsTer3
ENST00000527869.6:c.353-1550_353-1549del ENSP00000432652.2:n.353-1550_353-1549del
ENST00000527869.7:c.602-1550_602-1549del ENSP00000432652.3:n.602-1550_602-1549del
ENST00000531904.6:c.1569_1570del ENSP00000432391.2:p.Gln524GlyfsTer3
ENST00000531904.7:c.1569_1570del ENSP00000432391.3:p.Gln524GlyfsTer3
ENST00000533790.1:c.254-1550_254-1549del ENSP00000436700.1:n.254-1550_254-1549del
ENST00000533790.2:c.272-1550_272-1549del ENSP00000436700.2:n.272-1550_272-1549del
ENST00000533790.3:c.503-1550_503-1549del ENSP00000436700.3:n.503-1550_503-1549del
ENST00000534358.5:c.1470_1471del ENSP00000436786.1:p.Gln491GlyfsTer3
ENST00000648261.1:c.240_241del ENSP00000498126.1:p.Gln81GlyfsTer3
ENST00000649690.1:c.412+644_412+645del ENSP00000497372.1:n.412+644_412+645del
ENST00000649690.2:c.826+644_826+645del ENSP00000497372.2:n.826+644_826+645del
ENST00000649699.1:c.1470_1471del ENSP00000496927.1:p.Gln491GlyfsTer3
ENST00000691053.1:c.1470_1471del ENSP00000509168.1:p.Gln491GlyfsTer3
ENST00000710560.1:c.1569_1570del ENSP00000518343.1:p.Gln524GlyfsTer3
XM_006718839.2:c.503-1550_503-1549del XP_006718902.2:n.503-1550_503-1549del
XM_006718839.3:c.503-1550_503-1549del XP_006718902.2:n.503-1550_503-1549del
XM_011542829.1:c.1569_1570del XP_011541131.1:p.Gln524GlyfsTer3
XM_011542829.2:c.1569_1570del XP_011541131.1:p.Gln524GlyfsTer3
XM_011542830.1:c.1569_1570del XP_011541132.1:p.Gln524GlyfsTer3
XM_011542830.2:c.1569_1570del XP_011541132.1:p.Gln524GlyfsTer3
XM_011542831.1:c.1569_1570del XP_011541133.1:p.Gln524GlyfsTer3
XM_011542831.2:c.1569_1570del XP_011541133.1:p.Gln524GlyfsTer3
XM_011542832.1:c.925+644_925+645del XP_011541134.1:n.925+644_925+645del
XM_011542833.1:c.602-1550_602-1549del XP_011541135.1:n.602-1550_602-1549del
XM_011542833.2:c.602-1550_602-1549del XP_011541135.1:n.602-1550_602-1549del