Canonical Allele Identifier: CA16619538
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs1064793884
MyVariant Identifiers: chr12:g.49437410_49437413del (hg19) chr12:g.49043627_49043630del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49043631_49043634del , CM000674.2:g.49043631_49043634del GRCh38
NC_000012.11:g.49437414_49437417del , CM000674.1:g.49437414_49437417del GRCh37
NC_000012.10:g.47723681_47723684del NCBI36
NG_027827.1:g.16695_16698del

Transcript Alleles

HGVS Amino-acid change
ENST00000650290.2:c.279+5_279+8del
ENST00000683543.2:c.5467+5_5467+8del ENSP00000506726.1:n.5467+5_5467+8del
ENST00000685166.1:c.5476+5_5476+8del ENSP00000509386.1:n.5476+5_5476+8del
ENST00000688095.1:c.1416+5_1416+8del ENSP00000510007.1:n.1416+5_1416+8del
ENST00000692637.1:c.5464+5_5464+8del ENSP00000509666.1:n.5464+5_5464+8del
ENST00000301067.12:c.5467+5_5467+8del MANE Select ENSP00000301067.7:n.5467+5_5467+8del
ENST00000301067.11:c.5467+5_5467+8del ENSP00000301067.7:n.5467+5_5467+8del
ENST00000550356.1:n.69_72del
NM_003482.3:c.5467+5_5467+8del NP_003473.3:n.5467+5_5467+8del
XM_005269162.3:c.5467+5_5467+8del XP_005269219.1:n.5467+5_5467+8del
XM_006719614.2:c.5476+5_5476+8del XP_006719677.1:n.5476+5_5476+8del
XM_006719616.2:c.5464+5_5464+8del XP_006719679.1:n.5464+5_5464+8del
XM_011538770.1:c.5476+5_5476+8del XP_011537072.1:n.5476+5_5476+8del
XM_011538771.1:c.5473+5_5473+8del XP_011537073.1:n.5473+5_5473+8del
XM_011538772.1:c.5467+5_5467+8del XP_011537074.1:n.5467+5_5467+8del
XM_011538773.1:c.5464+5_5464+8del XP_011537075.1:n.5464+5_5464+8del
XM_011538774.1:c.5476+5_5476+8del XP_011537076.1:n.5476+5_5476+8del
XM_011538775.1:c.5476+5_5476+8del XP_011537077.1:n.5476+5_5476+8del
XM_011538776.1:c.5476+5_5476+8del XP_011537078.1:n.5476+5_5476+8del
XR_944740.1:n.7796+5_7796+8del
XM_005269162.4:c.5467+5_5467+8del XP_005269219.1:n.5467+5_5467+8del
XM_006719614.4:c.5476+5_5476+8del XP_006719677.1:n.5476+5_5476+8del
XM_006719616.3:c.5464+5_5464+8del XP_006719679.1:n.5464+5_5464+8del
XM_011538770.2:c.5476+5_5476+8del XP_011537072.1:n.5476+5_5476+8del
XM_011538771.2:c.5473+5_5473+8del XP_011537073.1:n.5473+5_5473+8del
XM_011538772.2:c.5467+5_5467+8del XP_011537074.1:n.5467+5_5467+8del
XM_011538773.2:c.5464+5_5464+8del XP_011537075.1:n.5464+5_5464+8del
XM_011538774.2:c.5476+5_5476+8del XP_011537076.1:n.5476+5_5476+8del
XM_011538776.2:c.5476+5_5476+8del XP_011537078.1:n.5476+5_5476+8del
XR_001748874.1:n.6785+5_6785+8del
NM_003482.4:c.5467+5_5467+8del MANE Select NP_003473.3:n.5467+5_5467+8del
Search 100 bp 5'
Search 100 bp 3'