Canonical Allele Identifier: CA2825002001
Community Standard Title: NM_001197104.2(KMT2A):c.5824_5827del (p.Pro1942GlufsTer?)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118498391_118498394del , CM000673.2:g.118498391_118498394del GRCh38
NC_000011.9:g.118369106_118369109del , CM000673.1:g.118369106_118369109del GRCh37
NC_000011.8:g.117874316_117874319del NCBI36
NG_027813.1:g.66902_66905del , LRG_613:g.66902_66905del

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.5824_5827del MANE Select NP_001184033.1:p.Pro1942GlufsTer?
ENST00000534358.8:c.5824_5827del MANE Select ENSP00000436786.2:p.Pro1942GlufsTer?
NM_001197104.1:c.5824_5827del , LRG_613t1:c.5824_5827del NP_001184033.1:p.Pro1942GlufsTer?
NM_005933.3:c.5815_5818del NP_005924.2:p.Pro1939GlufsTer?
NM_005933.4:c.5815_5818del NP_005924.2:p.Pro1939GlufsTer?
ENST00000389506.10:c.5815_5818del ENSP00000374157.5:p.Pro1939GlufsTer?
ENST00000389506.9:c.5815_5818del ENSP00000374157.5:p.Pro1939GlufsTer?
ENST00000528278.2:n.2905_2908del
ENST00000531904.7:c.5923_5926del ENSP00000432391.3:p.Pro1975GlufsTer?
ENST00000534358.5:c.5824_5827del ENSP00000436786.1:p.Pro1942GlufsTer?
ENST00000649699.1:c.5701_5704del ENSP00000496927.1:p.Pro1901GlufsTer?
ENST00000689424.1:c.160_163del ENSP00000509852.1:p.Pro54GlufsTer?
ENST00000691053.1:c.5896_5899del ENSP00000509168.1:p.Pro1966GlufsTer?
ENST00000710560.1:c.5914_5917del ENSP00000518343.1:p.Pro1972GlufsTer?
XM_006718839.2:c.3307_3310del XP_006718902.2:p.Pro1103GlufsTer?
XM_006718839.3:c.3307_3310del XP_006718902.2:p.Pro1103GlufsTer?
XM_011542829.1:c.5923_5926del XP_011541131.1:p.Pro1975GlufsTer?
XM_011542829.2:c.5923_5926del XP_011541131.1:p.Pro1975GlufsTer?
XM_011542830.1:c.5920_5923del XP_011541132.1:p.Pro1974GlufsTer?
XM_011542830.2:c.5920_5923del XP_011541132.1:p.Pro1974GlufsTer?
XM_011542831.1:c.5914_5917del XP_011541133.1:p.Pro1972GlufsTer?
XM_011542831.2:c.5914_5917del XP_011541133.1:p.Pro1972GlufsTer?
XM_011542832.1:c.3730_3733del XP_011541134.1:p.Pro1244GlufsTer?
XM_011542833.1:c.3406_3409del XP_011541135.1:p.Pro1136GlufsTer?
XM_011542833.2:c.3406_3409del XP_011541135.1:p.Pro1136GlufsTer?