Canonical Allele Identifier: CA2740093224
Community Standard Title: NM_001197104.2(KMT2A):c.11870del (p.Lys3957SerfsTer15)
Gene: KMT2A HGNC NCBI
TTC36-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118522123del , CM000673.2:g.118522123del GRCh38
NC_000011.9:g.118392838del , CM000673.1:g.118392838del GRCh37
NC_000011.8:g.117898048del NCBI36
NG_027813.1:g.90634del , LRG_613:g.90634del

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.11870del (KMT2A) MANE Select NP_001184033.1:p.Lys3957SerfsTer15
ENST00000534358.8:c.11870del (KMT2A) MANE Select ENSP00000436786.2:p.Lys3957SerfsTer15
NM_001197104.1:c.11870del , LRG_613t1:c.11870del (KMT2A) NP_001184033.1:p.Lys3957SerfsTer15
NM_005933.3:c.11861del (KMT2A) NP_005924.2:p.Lys3954SerfsTer15
NM_005933.4:c.11861del (KMT2A) NP_005924.2:p.Lys3954SerfsTer15
NR_120572.1:n.380-808del (TTC36-AS1)
NR_120573.1:n.273-808del (TTC36-AS1)
NR_120574.1:n.273-808del (TTC36-AS1)
NR_120575.1:n.273-808del (TTC36-AS1)
NR_120576.1:n.105-808del (TTC36-AS1)
ENST00000389506.10:c.11861del (KMT2A) ENSP00000374157.5:p.Lys3954SerfsTer15
ENST00000389506.9:c.11861del (KMT2A) ENSP00000374157.5:p.Lys3954SerfsTer15
ENST00000525408.1:n.783del (KMT2A)
ENST00000525408.2:n.785del (KMT2A)
ENST00000527839.1:n.1810del (KMT2A)
ENST00000527839.2:n.1370del (KMT2A)
ENST00000531904.7:c.11969del (KMT2A) ENSP00000432391.3:p.Lys3990SerfsTer15
ENST00000534358.5:c.11870del (KMT2A) ENSP00000436786.1:p.Lys3957SerfsTer15
ENST00000648565.1:n.1106del (KMT2A)
ENST00000649699.1:c.11747del (KMT2A) ENSP00000496927.1:p.Lys3916SerfsTer15
ENST00000686588.1:c.966del (KMT2A)
ENST00000691053.1:c.11942del (KMT2A) ENSP00000509168.1:p.Lys3981SerfsTer15
ENST00000710560.1:c.11960del (KMT2A) ENSP00000518343.1:p.Lys3987SerfsTer15
XM_006718839.2:c.9353del (KMT2A) XP_006718902.2:p.Lys3118SerfsTer15
XM_006718839.3:c.9353del (KMT2A) XP_006718902.2:p.Lys3118SerfsTer15
XM_011542829.1:c.11969del (KMT2A) XP_011541131.1:p.Lys3990SerfsTer15
XM_011542829.2:c.11969del (KMT2A) XP_011541131.1:p.Lys3990SerfsTer15
XM_011542830.1:c.11966del (KMT2A) XP_011541132.1:p.Lys3989SerfsTer15
XM_011542830.2:c.11966del (KMT2A) XP_011541132.1:p.Lys3989SerfsTer15
XM_011542831.1:c.11960del (KMT2A) XP_011541133.1:p.Lys3987SerfsTer15
XM_011542831.2:c.11960del (KMT2A) XP_011541133.1:p.Lys3987SerfsTer15
XM_011542832.1:c.9776del (KMT2A) XP_011541134.1:p.Lys3259SerfsTer15
XM_011542833.1:c.9452del (KMT2A) XP_011541135.1:p.Lys3151SerfsTer15
XM_011542833.2:c.9452del (KMT2A) XP_011541135.1:p.Lys3151SerfsTer15