Canonical Allele Identifier: CA16619539
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 422853
ClinVar RCV Id: RCV000486880
dbSNP Id: rs1064796043
MyVariant Identifiers: chr12:g.49437691_49437692del (hg19) chr12:g.49043908_49043909del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49043908_49043909del , CM000674.2:g.49043908_49043909del GRCh38
NC_000012.11:g.49437691_49437692del , CM000674.1:g.49437691_49437692del GRCh37
NC_000012.10:g.47723958_47723959del NCBI36
NG_027827.1:g.16416_16417del

Transcript Alleles

HGVS Amino-acid change
ENST00000650290.2:c.90_91del
ENST00000683543.2:c.5278_5279del ENSP00000506726.1:p.Lys1760GlufsTer27
ENST00000685166.1:c.5287_5288del ENSP00000509386.1:p.Lys1763GlufsTer27
ENST00000688095.1:c.1227_1228del ENSP00000510007.1:n.1227_1228del
ENST00000692637.1:c.5275_5276del ENSP00000509666.1:p.Lys1759GlufsTer27
ENST00000301067.12:c.5278_5279del MANE Select ENSP00000301067.7:p.Lys1760GlufsTer27
ENST00000650290.1:c.324_325del
ENST00000301067.11:c.5278_5279del ENSP00000301067.7:p.Lys1760GlufsTer27
NM_003482.3:c.5278_5279del NP_003473.3:p.Lys1760GlufsTer27
XM_005269162.3:c.5278_5279del XP_005269219.1:p.Lys1760GlufsTer27
XM_006719614.2:c.5287_5288del XP_006719677.1:p.Lys1763GlufsTer27
XM_006719616.2:c.5275_5276del XP_006719679.1:p.Lys1759GlufsTer27
XM_011538770.1:c.5287_5288del XP_011537072.1:p.Lys1763GlufsTer27
XM_011538771.1:c.5284_5285del XP_011537073.1:p.Lys1762GlufsTer27
XM_011538772.1:c.5278_5279del XP_011537074.1:p.Lys1760GlufsTer27
XM_011538773.1:c.5275_5276del XP_011537075.1:p.Lys1759GlufsTer27
XM_011538774.1:c.5287_5288del XP_011537076.1:p.Lys1763GlufsTer27
XM_011538775.1:c.5287_5288del XP_011537077.1:p.Lys1763GlufsTer27
XM_011538776.1:c.5287_5288del XP_011537078.1:p.Lys1763GlufsTer27
XR_944740.1:n.7607_7608del
XM_005269162.4:c.5278_5279del XP_005269219.1:p.Lys1760GlufsTer27
XM_006719614.4:c.5287_5288del XP_006719677.1:p.Lys1763GlufsTer27
XM_006719616.3:c.5275_5276del XP_006719679.1:p.Lys1759GlufsTer27
XM_011538770.2:c.5287_5288del XP_011537072.1:p.Lys1763GlufsTer27
XM_011538771.2:c.5284_5285del XP_011537073.1:p.Lys1762GlufsTer27
XM_011538772.2:c.5278_5279del XP_011537074.1:p.Lys1760GlufsTer27
XM_011538773.2:c.5275_5276del XP_011537075.1:p.Lys1759GlufsTer27
XM_011538774.2:c.5287_5288del XP_011537076.1:p.Lys1763GlufsTer27
XM_011538776.2:c.5287_5288del XP_011537078.1:p.Lys1763GlufsTer27
XR_001748874.1:n.6596_6597del
NM_003482.4:c.5278_5279del MANE Select NP_003473.3:p.Lys1760GlufsTer27
Search 100 bp 5'
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