Canonical Allele Identifier: CA2575144336

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49024532-T-TCAACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024534_49024539dup , CM000674.2:g.49024534_49024539dup	GRCh38
NC_000012.11:g.49418317_49418322dup , CM000674.1:g.49418317_49418322dup	GRCh37
NC_000012.10:g.47704584_47704589dup	NCBI36
NG_027827.1:g.35787_35792dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.724+40_724+45dup
ENST00000682693.1:n.24_29dup
ENST00000683543.2:c.16052+40_16052+45dup	ENSP00000506726.1:n.16052+40_16052+45dup
ENST00000683863.1:n.1807_1812dup
ENST00000684428.1:c.587+40_587+45dup	ENSP00000507433.1:n.587+40_587+45dup
ENST00000684755.1:n.587+40_587+45dup
ENST00000685024.1:c.1206+40_1206+45dup
ENST00000685166.1:c.16061+40_16061+45dup	ENSP00000509386.1:n.16061+40_16061+45dup
ENST00000688411.1:c.529+40_529+45dup	ENSP00000510146.1:n.529+40_529+45dup
ENST00000691932.1:c.131+40_131+45dup	ENSP00000509037.1:n.131+40_131+45dup
ENST00000692637.1:c.16049+40_16049+45dup	ENSP00000509666.1:n.16049+40_16049+45dup
ENST00000301067.12:c.16052+40_16052+45dup MANE Select	ENSP00000301067.7:n.16052+40_16052+45dup
ENST00000301067.11:c.16052+40_16052+45dup	ENSP00000301067.7:n.16052+40_16052+45dup
ENST00000526209.1:c.47+40_47+45dup	ENSP00000435714.1:n.47+40_47+45dup
NM_003482.3:c.16052+40_16052+45dup	NP_003473.3:n.16052+40_16052+45dup
XM_005269162.3:c.16052+40_16052+45dup	XP_005269219.1:n.16052+40_16052+45dup
XM_006719614.2:c.16061+40_16061+45dup	XP_006719677.1:n.16061+40_16061+45dup
XM_006719616.2:c.16049+40_16049+45dup	XP_006719679.1:n.16049+40_16049+45dup
XM_011538770.1:c.16061+40_16061+45dup	XP_011537072.1:n.16061+40_16061+45dup
XM_011538771.1:c.16058+40_16058+45dup	XP_011537073.1:n.16058+40_16058+45dup
XM_011538772.1:c.16052+40_16052+45dup	XP_011537074.1:n.16052+40_16052+45dup
XM_011538773.1:c.16049+40_16049+45dup	XP_011537075.1:n.16049+40_16049+45dup
XM_011538774.1:c.16040+40_16040+45dup	XP_011537076.1:n.16040+40_16040+45dup
XM_011538775.1:c.15995+40_15995+45dup	XP_011537077.1:n.15995+40_15995+45dup
XM_011538776.1:c.15968+40_15968+45dup	XP_011537078.1:n.15968+40_15968+45dup
XM_005269162.4:c.16052+40_16052+45dup	XP_005269219.1:n.16052+40_16052+45dup
XM_006719614.4:c.16061+40_16061+45dup	XP_006719677.1:n.16061+40_16061+45dup
XM_006719616.3:c.16049+40_16049+45dup	XP_006719679.1:n.16049+40_16049+45dup
XM_011538770.2:c.16061+40_16061+45dup	XP_011537072.1:n.16061+40_16061+45dup
XM_011538771.2:c.16058+40_16058+45dup	XP_011537073.1:n.16058+40_16058+45dup
XM_011538772.2:c.16052+40_16052+45dup	XP_011537074.1:n.16052+40_16052+45dup
XM_011538773.2:c.16049+40_16049+45dup	XP_011537075.1:n.16049+40_16049+45dup
XM_011538774.2:c.16040+40_16040+45dup	XP_011537076.1:n.16040+40_16040+45dup
XM_011538776.2:c.15968+40_15968+45dup	XP_011537078.1:n.15968+40_15968+45dup
XR_001748874.1:n.16229+40_16229+45dup
NM_003482.4:c.16052+40_16052+45dup MANE Select	NP_003473.3:n.16052+40_16052+45dup