Canonical Allele Identifier: CA2618609297

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49042026-G-GCAGGCGACTCCTCCACCTGCCATGTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042032_49042059dup , CM000674.2:g.49042032_49042059dup	GRCh38
NC_000012.11:g.49435815_49435842dup , CM000674.1:g.49435815_49435842dup	GRCh37
NC_000012.10:g.47722082_47722109dup	NCBI36
NG_027827.1:g.18271_18298dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.900+35_901-37dup
ENST00000683543.2:c.6109+35_6110-37dup	ENSP00000506726.1:n.6109+35_6110-37dup
ENST00000685166.1:c.6118+35_6119-37dup	ENSP00000509386.1:n.6118+35_6119-37dup
ENST00000689060.1:c.221+35_222-37dup
ENST00000689944.1:c.221+35_222-37dup
ENST00000692637.1:c.6106+35_6107-37dup	ENSP00000509666.1:n.6106+35_6107-37dup
ENST00000301067.12:c.6109+35_6110-37dup MANE Select	ENSP00000301067.7:n.6109+35_6110-37dup
ENST00000301067.11:c.6109+35_6110-37dup	ENSP00000301067.7:n.6109+35_6110-37dup
NM_003482.3:c.6109+35_6110-37dup	NP_003473.3:n.6109+35_6110-37dup
XM_005269162.3:c.6109+35_6110-37dup	XP_005269219.1:n.6109+35_6110-37dup
XM_006719614.2:c.6118+35_6119-37dup	XP_006719677.1:n.6118+35_6119-37dup
XM_006719616.2:c.6106+35_6107-37dup	XP_006719679.1:n.6106+35_6107-37dup
XM_011538770.1:c.6118+35_6119-37dup	XP_011537072.1:n.6118+35_6119-37dup
XM_011538771.1:c.6115+35_6116-37dup	XP_011537073.1:n.6115+35_6116-37dup
XM_011538772.1:c.6109+35_6110-37dup	XP_011537074.1:n.6109+35_6110-37dup
XM_011538773.1:c.6106+35_6107-37dup	XP_011537075.1:n.6106+35_6107-37dup
XM_011538774.1:c.6097+35_6098-37dup	XP_011537076.1:n.6097+35_6098-37dup
XM_011538775.1:c.6118+35_6119-37dup	XP_011537077.1:n.6118+35_6119-37dup
XM_011538776.1:c.6118+35_6119-37dup	XP_011537078.1:n.6118+35_6119-37dup
XR_944740.1:n.8438+35_8439-37dup
XM_005269162.4:c.6109+35_6110-37dup	XP_005269219.1:n.6109+35_6110-37dup
XM_006719614.4:c.6118+35_6119-37dup	XP_006719677.1:n.6118+35_6119-37dup
XM_006719616.3:c.6106+35_6107-37dup	XP_006719679.1:n.6106+35_6107-37dup
XM_011538770.2:c.6118+35_6119-37dup	XP_011537072.1:n.6118+35_6119-37dup
XM_011538771.2:c.6115+35_6116-37dup	XP_011537073.1:n.6115+35_6116-37dup
XM_011538772.2:c.6109+35_6110-37dup	XP_011537074.1:n.6109+35_6110-37dup
XM_011538773.2:c.6106+35_6107-37dup	XP_011537075.1:n.6106+35_6107-37dup
XM_011538774.2:c.6097+35_6098-37dup	XP_011537076.1:n.6097+35_6098-37dup
XM_011538776.2:c.6118+35_6119-37dup	XP_011537078.1:n.6118+35_6119-37dup
XR_001748874.1:n.7427+35_7428-37dup
NM_003482.4:c.6109+35_6110-37dup MANE Select	NP_003473.3:n.6109+35_6110-37dup