Canonical Allele Identifier: CA16044022
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs1057519067

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49033231_49033234del , CM000674.2:g.49033231_49033234del GRCh38
NC_000012.11:g.49427014_49427017del , CM000674.1:g.49427014_49427017del GRCh37
NC_000012.10:g.47713281_47713284del NCBI36
NG_027827.1:g.27095_27098del

Transcript Alleles

HGVS Amino-acid change
ENST00000683543.2:c.11475_11478del ENSP00000506726.1:p.Gln3826CysfsTer3
ENST00000685166.1:c.11484_11487del ENSP00000509386.1:p.Gln3829CysfsTer3
ENST00000685554.1:c.1035_1038del ENSP00000508640.1:p.Gln346CysfsTer3
ENST00000687201.1:c.3054_3057del ENSP00000510037.1:p.Gln1019CysfsTer3
ENST00000692637.1:c.11472_11475del ENSP00000509666.1:p.Gln3825CysfsTer3
ENST00000692841.1:c.2954_2957del ENSP00000508711.1:n.2954_2957del
ENST00000301067.12:c.11475_11478del MANE Select ENSP00000301067.7:p.Gln3826CysfsTer3
ENST00000301067.11:c.11475_11478del ENSP00000301067.7:p.Gln3826CysfsTer3
NM_003482.3:c.11475_11478del NP_003473.3:p.Gln3826CysfsTer3
XM_005269162.3:c.11475_11478del XP_005269219.1:p.Gln3826CysfsTer3
XM_006719614.2:c.11484_11487del XP_006719677.1:p.Gln3829CysfsTer3
XM_006719616.2:c.11472_11475del XP_006719679.1:p.Gln3825CysfsTer3
XM_011538770.1:c.11484_11487del XP_011537072.1:p.Gln3829CysfsTer3
XM_011538771.1:c.11481_11484del XP_011537073.1:p.Gln3828CysfsTer3
XM_011538772.1:c.11475_11478del XP_011537074.1:p.Gln3826CysfsTer3
XM_011538773.1:c.11472_11475del XP_011537075.1:p.Gln3825CysfsTer3
XM_011538774.1:c.11463_11466del XP_011537076.1:p.Gln3822CysfsTer3
XM_011538775.1:c.11484_11487del XP_011537077.1:p.Gln3829CysfsTer3
XM_011538776.1:c.11391_11394del XP_011537078.1:p.Gln3798CysfsTer3
XR_944740.1:n.13804_13807del
XM_005269162.4:c.11475_11478del XP_005269219.1:p.Gln3826CysfsTer3
XM_006719614.4:c.11484_11487del XP_006719677.1:p.Gln3829CysfsTer3
XM_006719616.3:c.11472_11475del XP_006719679.1:p.Gln3825CysfsTer3
XM_011538770.2:c.11484_11487del XP_011537072.1:p.Gln3829CysfsTer3
XM_011538771.2:c.11481_11484del XP_011537073.1:p.Gln3828CysfsTer3
XM_011538772.2:c.11475_11478del XP_011537074.1:p.Gln3826CysfsTer3
XM_011538773.2:c.11472_11475del XP_011537075.1:p.Gln3825CysfsTer3
XM_011538774.2:c.11463_11466del XP_011537076.1:p.Gln3822CysfsTer3
XM_011538776.2:c.11391_11394del XP_011537078.1:p.Gln3798CysfsTer3
XR_001748874.1:n.12793_12796del
NM_003482.4:c.11475_11478del MANE Select NP_003473.3:p.Gln3826CysfsTer3