Canonical Allele Identifier: CA16043789
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 374546
ClinVar RCV Id: RCV000415772
dbSNP Id: rs1057519149
MyVariant Identifiers: chr11:g.118344389dupT (hg19) chr11:g.118473674dupT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118473676dup , CM000673.2:g.118473676dup GRCh38
NC_000011.9:g.118344391dup , CM000673.1:g.118344391dup GRCh37
NC_000011.8:g.117849601dup NCBI36
NG_027813.1:g.42187dup , LRG_613:g.42187dup

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.2616dup ENSP00000432391.3:p.Thr873TyrfsTer7
ENST00000710560.1:c.2616dup ENSP00000518343.1:p.Thr873TyrfsTer7
ENST00000527869.7:c.602-503dup ENSP00000432652.3:n.602-503dup
ENST00000533790.3:c.503-503dup ENSP00000436700.3:n.503-503dup
ENST00000649690.2:c.827-503dup ENSP00000497372.2:n.827-503dup
ENST00000691053.1:c.2517dup ENSP00000509168.1:p.Thr840TyrfsTer7
ENST00000389506.10:c.2517dup ENSP00000374157.5:p.Thr840TyrfsTer7
ENST00000533790.2:c.272-503dup ENSP00000436700.2:n.272-503dup
ENST00000534358.8:c.2517dup MANE Select ENSP00000436786.2:p.Thr840TyrfsTer7
ENST00000648261.1:c.1287dup ENSP00000498126.1:p.Thr430TyrfsTer7
ENST00000649690.1:c.413-503dup ENSP00000497372.1:n.413-503dup
ENST00000649699.1:c.2517dup ENSP00000496927.1:p.Thr840TyrfsTer7
ENST00000389506.9:c.2517dup ENSP00000374157.5:p.Thr840TyrfsTer7
ENST00000527869.6:c.353-503dup ENSP00000432652.2:n.353-503dup
ENST00000531904.6:c.2616dup ENSP00000432391.2:p.Thr873TyrfsTer7
ENST00000533790.1:c.254-503dup ENSP00000436700.1:n.254-503dup
ENST00000534358.5:c.2517dup ENSP00000436786.1:p.Thr840TyrfsTer7
NM_001197104.1:c.2517dup , LRG_613t1:c.2517dup NP_001184033.1:p.Thr840TyrfsTer7
NM_005933.3:c.2517dup NP_005924.2:p.Thr840TyrfsTer7
XM_006718839.2:c.503-503dup XP_006718902.2:n.503-503dup
XM_011542829.1:c.2616dup XP_011541131.1:p.Thr873TyrfsTer7
XM_011542830.1:c.2616dup XP_011541132.1:p.Thr873TyrfsTer7
XM_011542831.1:c.2616dup XP_011541133.1:p.Thr873TyrfsTer7
XM_011542832.1:c.926-503dup XP_011541134.1:n.926-503dup
XM_011542833.1:c.602-503dup XP_011541135.1:n.602-503dup
XM_006718839.3:c.503-503dup XP_006718902.2:n.503-503dup
XM_011542829.2:c.2616dup XP_011541131.1:p.Thr873TyrfsTer7
XM_011542830.2:c.2616dup XP_011541132.1:p.Thr873TyrfsTer7
XM_011542831.2:c.2616dup XP_011541133.1:p.Thr873TyrfsTer7
XM_011542833.2:c.602-503dup XP_011541135.1:n.602-503dup
NM_001197104.2:c.2517dup MANE Select NP_001184033.1:p.Thr840TyrfsTer7
NM_005933.4:c.2517dup NP_005924.2:p.Thr840TyrfsTer7
Search 100 bp 5'
Search 100 bp 3'