Canonical Allele Identifier: CA16621636
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs1064797168
MyVariant Identifiers: chr12:g.49440465_49440466del (hg19) chr12:g.49046682_49046683del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49046684_49046685del , CM000674.2:g.49046684_49046685del GRCh38
NC_000012.11:g.49440467_49440468del , CM000674.1:g.49440467_49440468del GRCh37
NC_000012.10:g.47726734_47726735del NCBI36
NG_027827.1:g.13642_13643del

Transcript Alleles

HGVS Amino-acid change
ENST00000683543.2:c.4344_4345del ENSP00000506726.1:p.Cys1448Ter
ENST00000685166.1:c.4344_4345del ENSP00000509386.1:p.Cys1448Ter
ENST00000688095.1:c.324_325del ENSP00000510007.1:p.Cys108Ter
ENST00000692637.1:c.4341_4342del ENSP00000509666.1:p.Cys1447Ter
ENST00000301067.12:c.4344_4345del MANE Select ENSP00000301067.7:p.Cys1448Ter
ENST00000301067.11:c.4344_4345del ENSP00000301067.7:p.Cys1448Ter
NM_003482.3:c.4344_4345del NP_003473.3:p.Cys1448Ter
XM_005269162.3:c.4344_4345del XP_005269219.1:p.Cys1448Ter
XM_006719614.2:c.4344_4345del XP_006719677.1:p.Cys1448Ter
XM_006719616.2:c.4341_4342del XP_006719679.1:p.Cys1447Ter
XM_011538770.1:c.4344_4345del XP_011537072.1:p.Cys1448Ter
XM_011538771.1:c.4341_4342del XP_011537073.1:p.Cys1447Ter
XM_011538772.1:c.4344_4345del XP_011537074.1:p.Cys1448Ter
XM_011538773.1:c.4341_4342del XP_011537075.1:p.Cys1447Ter
XM_011538774.1:c.4344_4345del XP_011537076.1:p.Cys1448Ter
XM_011538775.1:c.4344_4345del XP_011537077.1:p.Cys1448Ter
XM_011538776.1:c.4344_4345del XP_011537078.1:p.Cys1448Ter
XR_944740.1:n.6664_6665del
XM_005269162.4:c.4344_4345del XP_005269219.1:p.Cys1448Ter
XM_006719614.4:c.4344_4345del XP_006719677.1:p.Cys1448Ter
XM_006719616.3:c.4341_4342del XP_006719679.1:p.Cys1447Ter
XM_011538770.2:c.4344_4345del XP_011537072.1:p.Cys1448Ter
XM_011538771.2:c.4341_4342del XP_011537073.1:p.Cys1447Ter
XM_011538772.2:c.4344_4345del XP_011537074.1:p.Cys1448Ter
XM_011538773.2:c.4341_4342del XP_011537075.1:p.Cys1447Ter
XM_011538774.2:c.4344_4345del XP_011537076.1:p.Cys1448Ter
XM_011538776.2:c.4344_4345del XP_011537078.1:p.Cys1448Ter
XR_001748874.1:n.5653_5654del
NM_003482.4:c.4344_4345del MANE Select NP_003473.3:p.Cys1448Ter
Search 100 bp 5'
Search 100 bp 3'