Canonical Allele Identifier: CA2618608815

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49031860-CGAGGCCCTGCCCCTAGCTCCTGGAGGGGGCCTGTCTGTGGTCCAGGGAAGCCCCCAAGTTGAGGTTGGCAGCCCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031870_49031945del , CM000674.2:g.49031870_49031945del	GRCh38
NC_000012.11:g.49425653_49425728del , CM000674.1:g.49425653_49425728del	GRCh37
NC_000012.10:g.47711920_47711995del	NCBI36
NG_027827.1:g.28389_28464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12769_12844del	ENSP00000506726.1:p.Leu4257AspfsTer?
ENST00000685166.1:c.12778_12853del	ENSP00000509386.1:p.Leu4260AspfsTer?
ENST00000685554.1:c.1752+577_1753-549del	ENSP00000508640.1:n.1752+577_1753-549del
ENST00000692637.1:c.12766_12841del	ENSP00000509666.1:p.Leu4256AspfsTer?
ENST00000692841.1:c.4248_4323del	ENSP00000508711.1:n.4248_4323del
ENST00000301067.12:c.12769_12844del MANE Select	ENSP00000301067.7:p.Leu4257AspfsTer?
ENST00000301067.11:c.12769_12844del	ENSP00000301067.7:p.Leu4257AspfsTer?
NM_003482.3:c.12769_12844del	NP_003473.3:p.Leu4257AspfsTer?
XM_005269162.3:c.12769_12844del	XP_005269219.1:p.Leu4257AspfsTer?
XM_006719614.2:c.12778_12853del	XP_006719677.1:p.Leu4260AspfsTer?
XM_006719616.2:c.12766_12841del	XP_006719679.1:p.Leu4256AspfsTer?
XM_011538770.1:c.12778_12853del	XP_011537072.1:p.Leu4260AspfsTer?
XM_011538771.1:c.12775_12850del	XP_011537073.1:p.Leu4259AspfsTer?
XM_011538772.1:c.12769_12844del	XP_011537074.1:p.Leu4257AspfsTer?
XM_011538773.1:c.12766_12841del	XP_011537075.1:p.Leu4256AspfsTer?
XM_011538774.1:c.12757_12832del	XP_011537076.1:p.Leu4253AspfsTer?
XM_011538775.1:c.12778_12853del	XP_011537077.1:p.Leu4260AspfsTer?
XM_011538776.1:c.12685_12760del	XP_011537078.1:p.Leu4229AspfsTer?
XR_944740.1:n.15098_15173del
XM_005269162.4:c.12769_12844del	XP_005269219.1:p.Leu4257AspfsTer?
XM_006719614.4:c.12778_12853del	XP_006719677.1:p.Leu4260AspfsTer?
XM_006719616.3:c.12766_12841del	XP_006719679.1:p.Leu4256AspfsTer?
XM_011538770.2:c.12778_12853del	XP_011537072.1:p.Leu4260AspfsTer?
XM_011538771.2:c.12775_12850del	XP_011537073.1:p.Leu4259AspfsTer?
XM_011538772.2:c.12769_12844del	XP_011537074.1:p.Leu4257AspfsTer?
XM_011538773.2:c.12766_12841del	XP_011537075.1:p.Leu4256AspfsTer?
XM_011538774.2:c.12757_12832del	XP_011537076.1:p.Leu4253AspfsTer?
XM_011538776.2:c.12685_12760del	XP_011537078.1:p.Leu4229AspfsTer?
XR_001748874.1:n.14087_14162del
NM_003482.4:c.12769_12844del MANE Select	NP_003473.3:p.Leu4257AspfsTer?