Canonical Allele Identifier: CA271630
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 158760
ClinVar RCV Id: RCV000146202
dbSNP Id: rs587783713
MyVariant Identifiers: chr12:g.49443676del (hg19) chr12:g.49049893del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49049895del , CM000674.2:g.49049895del GRCh38
NC_000012.11:g.49443678del , CM000674.1:g.49443678del GRCh37
NC_000012.10:g.47729945del NCBI36
NG_027827.1:g.10432del

Transcript Alleles

HGVS Amino-acid change
ENST00000683543.2:c.3695del ENSP00000506726.1:p.Pro1232ArgfsTer?
ENST00000685166.1:c.3695del ENSP00000509386.1:p.Pro1232ArgfsTer?
ENST00000692637.1:c.3695del ENSP00000509666.1:p.Pro1232ArgfsTer?
ENST00000301067.12:c.3695del MANE Select ENSP00000301067.7:p.Pro1232ArgfsTer?
ENST00000301067.11:c.3695del ENSP00000301067.7:p.Pro1232ArgfsTer?
NM_003482.3:c.3695del NP_003473.3:p.Pro1232ArgfsTer?
XM_005269162.3:c.3695del XP_005269219.1:p.Pro1232ArgfsTer?
XM_006719614.2:c.3695del XP_006719677.1:p.Pro1232ArgfsTer?
XM_006719616.2:c.3695del XP_006719679.1:p.Pro1232ArgfsTer?
XM_011538770.1:c.3695del XP_011537072.1:p.Pro1232ArgfsTer?
XM_011538771.1:c.3695del XP_011537073.1:p.Pro1232ArgfsTer?
XM_011538772.1:c.3695del XP_011537074.1:p.Pro1232ArgfsTer?
XM_011538773.1:c.3695del XP_011537075.1:p.Pro1232ArgfsTer?
XM_011538774.1:c.3695del XP_011537076.1:p.Pro1232ArgfsTer?
XM_011538775.1:c.3695del XP_011537077.1:p.Pro1232ArgfsTer?
XM_011538776.1:c.3695del XP_011537078.1:p.Pro1232ArgfsTer?
XR_944740.1:n.6015del
XM_005269162.4:c.3695del XP_005269219.1:p.Pro1232ArgfsTer?
XM_006719614.4:c.3695del XP_006719677.1:p.Pro1232ArgfsTer?
XM_006719616.3:c.3695del XP_006719679.1:p.Pro1232ArgfsTer?
XM_011538770.2:c.3695del XP_011537072.1:p.Pro1232ArgfsTer?
XM_011538771.2:c.3695del XP_011537073.1:p.Pro1232ArgfsTer?
XM_011538772.2:c.3695del XP_011537074.1:p.Pro1232ArgfsTer?
XM_011538773.2:c.3695del XP_011537075.1:p.Pro1232ArgfsTer?
XM_011538774.2:c.3695del XP_011537076.1:p.Pro1232ArgfsTer?
XM_011538776.2:c.3695del XP_011537078.1:p.Pro1232ArgfsTer?
XR_001748874.1:n.5004del
NM_003482.4:c.3695del MANE Select NP_003473.3:p.Pro1232ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'