Canonical Allele Identifier: CA689516668

Gene: KMT2D

Linked Data

• dbSNP Id: rs1410294010
• gnomAD v3: 12-49024528-CCT-C
• gnomAD v4: 12-49024528-CCT-C
• MyVariant Identifiers: chr12:g.49418312_49418313del (hg19) ; chr12:g.49024529_49024530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024529_49024530del , CM000674.2:g.49024529_49024530del	GRCh38
NC_000012.11:g.49418312_49418313del , CM000674.1:g.49418312_49418313del	GRCh37
NC_000012.10:g.47704579_47704580del	NCBI36
NG_027827.1:g.35795_35796del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.724+48_724+49del
ENST00000682693.1:n.32_33del
ENST00000683543.2:c.16052+48_16052+49del	ENSP00000506726.1:n.16052+48_16052+49del
ENST00000683863.1:n.1815_1816del
ENST00000684428.1:c.587+48_587+49del	ENSP00000507433.1:n.587+48_587+49del
ENST00000684755.1:n.587+48_587+49del
ENST00000685024.1:c.1206+48_1206+49del
ENST00000685166.1:c.16061+48_16061+49del	ENSP00000509386.1:n.16061+48_16061+49del
ENST00000688411.1:c.529+48_529+49del	ENSP00000510146.1:n.529+48_529+49del
ENST00000691932.1:c.131+48_131+49del	ENSP00000509037.1:n.131+48_131+49del
ENST00000692637.1:c.16049+48_16049+49del	ENSP00000509666.1:n.16049+48_16049+49del
ENST00000301067.12:c.16052+48_16052+49del MANE Select	ENSP00000301067.7:n.16052+48_16052+49del
ENST00000301067.11:c.16052+48_16052+49del	ENSP00000301067.7:n.16052+48_16052+49del
ENST00000526209.1:c.47+48_47+49del	ENSP00000435714.1:n.47+48_47+49del
NM_003482.3:c.16052+48_16052+49del	NP_003473.3:n.16052+48_16052+49del
XM_005269162.3:c.16052+48_16052+49del	XP_005269219.1:n.16052+48_16052+49del
XM_006719614.2:c.16061+48_16061+49del	XP_006719677.1:n.16061+48_16061+49del
XM_006719616.2:c.16049+48_16049+49del	XP_006719679.1:n.16049+48_16049+49del
XM_011538770.1:c.16061+48_16061+49del	XP_011537072.1:n.16061+48_16061+49del
XM_011538771.1:c.16058+48_16058+49del	XP_011537073.1:n.16058+48_16058+49del
XM_011538772.1:c.16052+48_16052+49del	XP_011537074.1:n.16052+48_16052+49del
XM_011538773.1:c.16049+48_16049+49del	XP_011537075.1:n.16049+48_16049+49del
XM_011538774.1:c.16040+48_16040+49del	XP_011537076.1:n.16040+48_16040+49del
XM_011538775.1:c.15995+48_15995+49del	XP_011537077.1:n.15995+48_15995+49del
XM_011538776.1:c.15968+48_15968+49del	XP_011537078.1:n.15968+48_15968+49del
XM_005269162.4:c.16052+48_16052+49del	XP_005269219.1:n.16052+48_16052+49del
XM_006719614.4:c.16061+48_16061+49del	XP_006719677.1:n.16061+48_16061+49del
XM_006719616.3:c.16049+48_16049+49del	XP_006719679.1:n.16049+48_16049+49del
XM_011538770.2:c.16061+48_16061+49del	XP_011537072.1:n.16061+48_16061+49del
XM_011538771.2:c.16058+48_16058+49del	XP_011537073.1:n.16058+48_16058+49del
XM_011538772.2:c.16052+48_16052+49del	XP_011537074.1:n.16052+48_16052+49del
XM_011538773.2:c.16049+48_16049+49del	XP_011537075.1:n.16049+48_16049+49del
XM_011538774.2:c.16040+48_16040+49del	XP_011537076.1:n.16040+48_16040+49del
XM_011538776.2:c.15968+48_15968+49del	XP_011537078.1:n.15968+48_15968+49del
XR_001748874.1:n.16229+48_16229+49del
NM_003482.4:c.16052+48_16052+49del MANE Select	NP_003473.3:n.16052+48_16052+49del