Canonical Allele Identifier: CA2976815378
Community Standard Title: NM_001197104.2(KMT2A):c.7913_7914insGAG (p.Tyr2638Ter)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503805_118503806insGAG , CM000673.2:g.118503805_118503806insGAG GRCh38
NC_000011.9:g.118374520_118374521insGAG , CM000673.1:g.118374520_118374521insGAG GRCh37
NC_000011.8:g.117879730_117879731insGAG NCBI36
NG_027813.1:g.72316_72317insGAG , LRG_613:g.72316_72317insGAG

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.7913_7914insGAG MANE Select NP_001184033.1:p.Tyr2638Ter
ENST00000534358.8:c.7913_7914insGAG MANE Select ENSP00000436786.2:p.Tyr2638Ter
NM_001197104.1:c.7913_7914insGAG , LRG_613t1:c.7913_7914insGAG NP_001184033.1:p.Tyr2638Ter
NM_005933.3:c.7904_7905insGAG NP_005924.2:p.Tyr2635Ter
NM_005933.4:c.7904_7905insGAG NP_005924.2:p.Tyr2635Ter
ENST00000389506.10:c.7904_7905insGAG ENSP00000374157.5:p.Tyr2635Ter
ENST00000389506.9:c.7904_7905insGAG ENSP00000374157.5:p.Tyr2635Ter
ENST00000528278.2:n.7255_7256insGAG
ENST00000531904.7:c.8012_8013insGAG ENSP00000432391.3:p.Tyr2671Ter
ENST00000534358.5:c.7913_7914insGAG ENSP00000436786.1:p.Tyr2638Ter
ENST00000649699.1:c.7790_7791insGAG ENSP00000496927.1:p.Tyr2597Ter
ENST00000649878.2:c.1952_1953insGAG ENSP00000497891.2:p.Tyr651Ter
ENST00000685397.1:c.1952_1953insGAG ENSP00000509586.1:p.Tyr651Ter
ENST00000686370.1:c.1952_1953insGAG ENSP00000509179.1:p.Tyr651Ter
ENST00000689424.1:c.2210_2211insGAG ENSP00000509852.1:p.Tyr737Ter
ENST00000691053.1:c.7985_7986insGAG ENSP00000509168.1:p.Tyr2662Ter
ENST00000710560.1:c.8003_8004insGAG ENSP00000518343.1:p.Tyr2668Ter
XM_006718839.2:c.5396_5397insGAG XP_006718902.2:p.Tyr1799Ter
XM_006718839.3:c.5396_5397insGAG XP_006718902.2:p.Tyr1799Ter
XM_011542829.1:c.8012_8013insGAG XP_011541131.1:p.Tyr2671Ter
XM_011542829.2:c.8012_8013insGAG XP_011541131.1:p.Tyr2671Ter
XM_011542830.1:c.8009_8010insGAG XP_011541132.1:p.Tyr2670Ter
XM_011542830.2:c.8009_8010insGAG XP_011541132.1:p.Tyr2670Ter
XM_011542831.1:c.8003_8004insGAG XP_011541133.1:p.Tyr2668Ter
XM_011542831.2:c.8003_8004insGAG XP_011541133.1:p.Tyr2668Ter
XM_011542832.1:c.5819_5820insGAG XP_011541134.1:p.Tyr1940Ter
XM_011542833.1:c.5495_5496insGAG XP_011541135.1:p.Tyr1832Ter
XM_011542833.2:c.5495_5496insGAG XP_011541135.1:p.Tyr1832Ter