Canonical Allele Identifier: CA2726137961

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120557389

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042603_49042609del , CM000674.2:g.49042603_49042609del	GRCh38
NC_000012.11:g.49436386_49436392del , CM000674.1:g.49436386_49436392del	GRCh37
NC_000012.10:g.47722653_47722659del	NCBI36
NG_027827.1:g.17717_17723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.632_638del
ENST00000683543.2:c.5820_5826del	ENSP00000506726.1:p.Met1941ProfsTer?
ENST00000685166.1:c.5829_5835del	ENSP00000509386.1:p.Met1944ProfsTer?
ENST00000688095.1:c.1769_1775del	ENSP00000510007.1:n.1769_1775del
ENST00000692637.1:c.5817_5823del	ENSP00000509666.1:p.Met1940ProfsTer?
ENST00000301067.12:c.5820_5826del MANE Select	ENSP00000301067.7:p.Met1941ProfsTer?
ENST00000301067.11:c.5820_5826del	ENSP00000301067.7:p.Met1941ProfsTer?
NM_003482.3:c.5820_5826del	NP_003473.3:p.Met1941ProfsTer?
XM_005269162.3:c.5820_5826del	XP_005269219.1:p.Met1941ProfsTer?
XM_006719614.2:c.5829_5835del	XP_006719677.1:p.Met1944ProfsTer?
XM_006719616.2:c.5817_5823del	XP_006719679.1:p.Met1940ProfsTer?
XM_011538770.1:c.5829_5835del	XP_011537072.1:p.Met1944ProfsTer?
XM_011538771.1:c.5826_5832del	XP_011537073.1:p.Met1943ProfsTer?
XM_011538772.1:c.5820_5826del	XP_011537074.1:p.Met1941ProfsTer?
XM_011538773.1:c.5817_5823del	XP_011537075.1:p.Met1940ProfsTer?
XM_011538774.1:c.5829_5835del	XP_011537076.1:p.Met1944ProfsTer?
XM_011538775.1:c.5829_5835del	XP_011537077.1:p.Met1944ProfsTer?
XM_011538776.1:c.5829_5835del	XP_011537078.1:p.Met1944ProfsTer?
XR_944740.1:n.8149_8155del
XM_005269162.4:c.5820_5826del	XP_005269219.1:p.Met1941ProfsTer?
XM_006719614.4:c.5829_5835del	XP_006719677.1:p.Met1944ProfsTer?
XM_006719616.3:c.5817_5823del	XP_006719679.1:p.Met1940ProfsTer?
XM_011538770.2:c.5829_5835del	XP_011537072.1:p.Met1944ProfsTer?
XM_011538771.2:c.5826_5832del	XP_011537073.1:p.Met1943ProfsTer?
XM_011538772.2:c.5820_5826del	XP_011537074.1:p.Met1941ProfsTer?
XM_011538773.2:c.5817_5823del	XP_011537075.1:p.Met1940ProfsTer?
XM_011538774.2:c.5829_5835del	XP_011537076.1:p.Met1944ProfsTer?
XM_011538776.2:c.5829_5835del	XP_011537078.1:p.Met1944ProfsTer?
XR_001748874.1:n.7138_7144del
NM_003482.4:c.5820_5826del MANE Select	NP_003473.3:p.Met1941ProfsTer?