Canonical Allele Identifier: CA6545394

Gene: KMT2D

Linked Data

• dbSNP Id: rs764188952
• ExAC: 12:49416342 GCAC / G
• gnomAD v2: 12-49416342-GCAC-G
• gnomAD v3: 12-49022559-GCAC-G
• gnomAD v4: 12-49022559-GCAC-G
• MyVariant Identifiers: chr12:g.49416343_49416345del (hg19) ; chr12:g.49022560_49022562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022563_49022565del , CM000674.2:g.49022563_49022565del	GRCh38
NC_000012.11:g.49416346_49416348del , CM000674.1:g.49416346_49416348del	GRCh37
NC_000012.10:g.47702613_47702615del	NCBI36
NG_027827.1:g.37763_37765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.308+28_308+30del
ENST00000681974.1:n.1010+28_1010+30del
ENST00000682693.1:n.1972+28_1972+30del
ENST00000682886.1:n.536_538del
ENST00000683543.2:c.16386+28_16386+30del	ENSP00000506726.1:n.16386+28_16386+30del
ENST00000683988.1:c.309+28_309+30del	ENSP00000506939.1:n.309+28_309+30del
ENST00000684428.1:c.873+28_873+30del	ENSP00000507433.1:n.873+28_873+30del
ENST00000684755.1:n.949_951del
ENST00000685024.1:c.1492+28_1492+30del
ENST00000685166.1:c.16347+28_16347+30del	ENSP00000509386.1:n.16347+28_16347+30del
ENST00000691932.1:c.339+28_339+30del	ENSP00000509037.1:n.339+28_339+30del
ENST00000692637.1:c.16335+28_16335+30del	ENSP00000509666.1:n.16335+28_16335+30del
ENST00000301067.12:c.16338+28_16338+30del MANE Select	ENSP00000301067.7:n.16338+28_16338+30del
ENST00000301067.11:c.16338+28_16338+30del	ENSP00000301067.7:n.16338+28_16338+30del
ENST00000526209.1:c.381+28_381+30del	ENSP00000435714.1:n.381+28_381+30del
NM_003482.3:c.16338+28_16338+30del	NP_003473.3:n.16338+28_16338+30del
XM_005269162.3:c.16338+28_16338+30del	XP_005269219.1:n.16338+28_16338+30del
XM_006719614.2:c.16347+28_16347+30del	XP_006719677.1:n.16347+28_16347+30del
XM_006719616.2:c.16335+28_16335+30del	XP_006719679.1:n.16335+28_16335+30del
XM_011538770.1:c.16395+28_16395+30del	XP_011537072.1:n.16395+28_16395+30del
XM_011538771.1:c.16392+28_16392+30del	XP_011537073.1:n.16392+28_16392+30del
XM_011538772.1:c.16386+28_16386+30del	XP_011537074.1:n.16386+28_16386+30del
XM_011538773.1:c.16383+28_16383+30del	XP_011537075.1:n.16383+28_16383+30del
XM_011538774.1:c.16374+28_16374+30del	XP_011537076.1:n.16374+28_16374+30del
XM_011538775.1:c.16329+28_16329+30del	XP_011537077.1:n.16329+28_16329+30del
XM_011538776.1:c.16302+28_16302+30del	XP_011537078.1:n.16302+28_16302+30del
XM_005269162.4:c.16338+28_16338+30del	XP_005269219.1:n.16338+28_16338+30del
XM_006719614.4:c.16347+28_16347+30del	XP_006719677.1:n.16347+28_16347+30del
XM_006719616.3:c.16335+28_16335+30del	XP_006719679.1:n.16335+28_16335+30del
XM_011538770.2:c.16395+28_16395+30del	XP_011537072.1:n.16395+28_16395+30del
XM_011538771.2:c.16392+28_16392+30del	XP_011537073.1:n.16392+28_16392+30del
XM_011538772.2:c.16386+28_16386+30del	XP_011537074.1:n.16386+28_16386+30del
XM_011538773.2:c.16383+28_16383+30del	XP_011537075.1:n.16383+28_16383+30del
XM_011538774.2:c.16374+28_16374+30del	XP_011537076.1:n.16374+28_16374+30del
XM_011538776.2:c.16302+28_16302+30del	XP_011537078.1:n.16302+28_16302+30del
XR_001748874.1:n.16515+28_16515+30del
NM_003482.4:c.16338+28_16338+30del MANE Select	NP_003473.3:n.16338+28_16338+30del