Canonical Allele Identifier: CA2724978460
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1591281736

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503241dup , CM000673.2:g.118503241dup GRCh38
NC_000011.9:g.118373956dup , CM000673.1:g.118373956dup GRCh37
NC_000011.8:g.117879166dup NCBI36
NG_027813.1:g.71752dup , LRG_613:g.71752dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7448dup ENSP00000432391.3:p.Leu2483PhefsTer10
ENST00000710560.1:c.7439dup ENSP00000518343.1:p.Leu2480PhefsTer10
ENST00000649878.2:c.1388dup ENSP00000497891.2:p.Leu463PhefsTer10
ENST00000685397.1:c.1388dup ENSP00000509586.1:p.Leu463PhefsTer10
ENST00000686370.1:c.1388dup ENSP00000509179.1:p.Leu463PhefsTer10
ENST00000689424.1:c.1646dup ENSP00000509852.1:p.Leu549PhefsTer10
ENST00000691053.1:c.7421dup ENSP00000509168.1:p.Leu2474PhefsTer10
ENST00000389506.10:c.7340dup ENSP00000374157.5:p.Leu2447PhefsTer10
ENST00000528278.2:n.6691dup
ENST00000534358.8:c.7349dup MANE Select ENSP00000436786.2:p.Leu2450PhefsTer10
ENST00000649699.1:c.7226dup ENSP00000496927.1:p.Leu2409PhefsTer10
ENST00000389506.9:c.7340dup ENSP00000374157.5:p.Leu2447PhefsTer10
ENST00000528278.1:n.1476dup
ENST00000534358.5:c.7349dup ENSP00000436786.1:p.Leu2450PhefsTer10
NM_001197104.1:c.7349dup , LRG_613t1:c.7349dup NP_001184033.1:p.Leu2450PhefsTer10
NM_005933.3:c.7340dup NP_005924.2:p.Leu2447PhefsTer10
XM_006718839.2:c.4832dup XP_006718902.2:p.Leu1611PhefsTer10
XM_011542829.1:c.7448dup XP_011541131.1:p.Leu2483PhefsTer10
XM_011542830.1:c.7445dup XP_011541132.1:p.Leu2482PhefsTer10
XM_011542831.1:c.7439dup XP_011541133.1:p.Leu2480PhefsTer10
XM_011542832.1:c.5255dup XP_011541134.1:p.Leu1752PhefsTer10
XM_011542833.1:c.4931dup XP_011541135.1:p.Leu1644PhefsTer10
XM_006718839.3:c.4832dup XP_006718902.2:p.Leu1611PhefsTer10
XM_011542829.2:c.7448dup XP_011541131.1:p.Leu2483PhefsTer10
XM_011542830.2:c.7445dup XP_011541132.1:p.Leu2482PhefsTer10
XM_011542831.2:c.7439dup XP_011541133.1:p.Leu2480PhefsTer10
XM_011542833.2:c.4931dup XP_011541135.1:p.Leu1644PhefsTer10
NM_001197104.2:c.7349dup MANE Select NP_001184033.1:p.Leu2450PhefsTer10
NM_005933.4:c.7340dup NP_005924.2:p.Leu2447PhefsTer10