Canonical Allele Identifier: CA2739272018

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2831971
• ClinVar RCV Id: RCV003754450

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042219_49042221dup , CM000674.2:g.49042219_49042221dup	GRCh38
NC_000012.11:g.49436002_49436004dup , CM000674.1:g.49436002_49436004dup	GRCh37
NC_000012.10:g.47722269_47722271dup	NCBI36
NG_027827.1:g.18105_18107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.769_771dup
ENST00000683543.2:c.5978_5980dup	ENSP00000506726.1:p.Gly1993_Asp1994insGly
ENST00000685166.1:c.5987_5989dup	ENSP00000509386.1:p.Gly1996_Asp1997insGly
ENST00000689060.1:c.90_92dup
ENST00000689944.1:c.90_92dup
ENST00000692637.1:c.5975_5977dup	ENSP00000509666.1:p.Gly1992_Asp1993insGly
ENST00000301067.12:c.5978_5980dup MANE Select	ENSP00000301067.7:p.Gly1993_Asp1994insGly
ENST00000301067.11:c.5978_5980dup	ENSP00000301067.7:p.Gly1993_Asp1994insGly
NM_003482.3:c.5978_5980dup	NP_003473.3:p.Gly1993_Asp1994insGly
XM_005269162.3:c.5978_5980dup	XP_005269219.1:p.Gly1993_Asp1994insGly
XM_006719614.2:c.5987_5989dup	XP_006719677.1:p.Gly1996_Asp1997insGly
XM_006719616.2:c.5975_5977dup	XP_006719679.1:p.Gly1992_Asp1993insGly
XM_011538770.1:c.5987_5989dup	XP_011537072.1:p.Gly1996_Asp1997insGly
XM_011538771.1:c.5984_5986dup	XP_011537073.1:p.Gly1995_Asp1996insGly
XM_011538772.1:c.5978_5980dup	XP_011537074.1:p.Gly1993_Asp1994insGly
XM_011538773.1:c.5975_5977dup	XP_011537075.1:p.Gly1992_Asp1993insGly
XM_011538774.1:c.5966_5968dup	XP_011537076.1:p.Gly1989_Asp1990insGly
XM_011538775.1:c.5987_5989dup	XP_011537077.1:p.Gly1996_Asp1997insGly
XM_011538776.1:c.5987_5989dup	XP_011537078.1:p.Gly1996_Asp1997insGly
XR_944740.1:n.8307_8309dup
XM_005269162.4:c.5978_5980dup	XP_005269219.1:p.Gly1993_Asp1994insGly
XM_006719614.4:c.5987_5989dup	XP_006719677.1:p.Gly1996_Asp1997insGly
XM_006719616.3:c.5975_5977dup	XP_006719679.1:p.Gly1992_Asp1993insGly
XM_011538770.2:c.5987_5989dup	XP_011537072.1:p.Gly1996_Asp1997insGly
XM_011538771.2:c.5984_5986dup	XP_011537073.1:p.Gly1995_Asp1996insGly
XM_011538772.2:c.5978_5980dup	XP_011537074.1:p.Gly1993_Asp1994insGly
XM_011538773.2:c.5975_5977dup	XP_011537075.1:p.Gly1992_Asp1993insGly
XM_011538774.2:c.5966_5968dup	XP_011537076.1:p.Gly1989_Asp1990insGly
XM_011538776.2:c.5987_5989dup	XP_011537078.1:p.Gly1996_Asp1997insGly
XR_001748874.1:n.7296_7298dup
NM_003482.4:c.5978_5980dup MANE Select	NP_003473.3:p.Gly1993_Asp1994insGly