Canonical Allele Identifier: CA2573148648
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1685362
ClinVar RCV Id: RCV002249089
dbSNP Id: rs2137704696

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49022267_49022281del , CM000674.2:g.49022267_49022281del GRCh38
NC_000012.11:g.49416050_49416064del , CM000674.1:g.49416050_49416064del GRCh37
NC_000012.10:g.47702317_47702331del NCBI36
NG_027827.1:g.38047_38061del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526209.2:c.382+2_382+16del
ENST00000681974.1:n.1084+2_1084+16del
ENST00000682693.1:n.2046+2_2046+16del
ENST00000682886.1:n.818+2_818+16del
ENST00000683543.2:c.16460+2_16460+16del
ENST00000683988.1:c.383+2_383+16del
ENST00000684428.1:c.1005+2_1005+16del
ENST00000685024.1:c.1566+2_1566+16del
ENST00000685166.1:c.16421+2_16421+16del
ENST00000691932.1:c.413+2_413+16del
ENST00000692637.1:c.16409+2_16409+16del
ENST00000301067.12:c.16412+2_16412+16del
ENST00000301067.11:c.16412+2_16412+16del
ENST00000526209.1:c.455+2_455+16del
NM_003482.3:c.16412+2_16412+16del
XM_005269162.3:c.16412+2_16412+16del
XM_006719614.2:c.16421+2_16421+16del
XM_006719616.2:c.16409+2_16409+16del
XM_011538770.1:c.16469+2_16469+16del
XM_011538771.1:c.16466+2_16466+16del
XM_011538772.1:c.16460+2_16460+16del
XM_011538773.1:c.16457+2_16457+16del
XM_011538774.1:c.16448+2_16448+16del
XM_011538775.1:c.16403+2_16403+16del
XM_011538776.1:c.16376+2_16376+16del
XM_005269162.4:c.16412+2_16412+16del
XM_006719614.4:c.16421+2_16421+16del
XM_006719616.3:c.16409+2_16409+16del
XM_011538770.2:c.16469+2_16469+16del
XM_011538771.2:c.16466+2_16466+16del
XM_011538772.2:c.16460+2_16460+16del
XM_011538773.2:c.16457+2_16457+16del
XM_011538774.2:c.16448+2_16448+16del
XM_011538776.2:c.16376+2_16376+16del
XR_001748874.1:n.16589+2_16589+16del
NM_003482.4:c.16412+2_16412+16del