Canonical Allele Identifier: CA2034946653

Gene: KMT2D

Linked Data

• dbSNP Id: rs1943033522
• gnomAD v4: 12-49033107-C-CTGTTGGTGCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033113_49033124dup , CM000674.2:g.49033113_49033124dup	GRCh38
NC_000012.11:g.49426896_49426907dup , CM000674.1:g.49426896_49426907dup	GRCh37
NC_000012.10:g.47713163_47713174dup	NCBI36
NG_027827.1:g.27206_27217dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11586_11597dup	ENSP00000506726.1:p.Gln3866_Gln3867insGlnHisGlnGln
ENST00000685166.1:c.11595_11606dup	ENSP00000509386.1:p.Gln3869_Gln3870insGlnHisGlnGln
ENST00000685554.1:c.1146_1157dup	ENSP00000508640.1:p.Gln386_Gln387insGlnHisGlnGln
ENST00000687201.1:c.3165_3176dup	ENSP00000510037.1:p.Gln1059_Gln1060insGlnHisGlnGln
ENST00000692637.1:c.11583_11594dup	ENSP00000509666.1:p.Gln3865_Gln3866insGlnHisGlnGln
ENST00000692841.1:c.3065_3076dup	ENSP00000508711.1:n.3065_3076dup
ENST00000301067.12:c.11586_11597dup MANE Select	ENSP00000301067.7:p.Gln3866_Gln3867insGlnHisGlnGln
ENST00000301067.11:c.11586_11597dup	ENSP00000301067.7:p.Gln3866_Gln3867insGlnHisGlnGln
NM_003482.3:c.11586_11597dup	NP_003473.3:p.Gln3866_Gln3867insGlnHisGlnGln
XM_005269162.3:c.11586_11597dup	XP_005269219.1:p.Gln3866_Gln3867insGlnHisGlnGln
XM_006719614.2:c.11595_11606dup	XP_006719677.1:p.Gln3869_Gln3870insGlnHisGlnGln
XM_006719616.2:c.11583_11594dup	XP_006719679.1:p.Gln3865_Gln3866insGlnHisGlnGln
XM_011538770.1:c.11595_11606dup	XP_011537072.1:p.Gln3869_Gln3870insGlnHisGlnGln
XM_011538771.1:c.11592_11603dup	XP_011537073.1:p.Gln3868_Gln3869insGlnHisGlnGln
XM_011538772.1:c.11586_11597dup	XP_011537074.1:p.Gln3866_Gln3867insGlnHisGlnGln
XM_011538773.1:c.11583_11594dup	XP_011537075.1:p.Gln3865_Gln3866insGlnHisGlnGln
XM_011538774.1:c.11574_11585dup	XP_011537076.1:p.Gln3862_Gln3863insGlnHisGlnGln
XM_011538775.1:c.11595_11606dup	XP_011537077.1:p.Gln3869_Gln3870insGlnHisGlnGln
XM_011538776.1:c.11502_11513dup	XP_011537078.1:p.Gln3838_Gln3839insGlnHisGlnGln
XR_944740.1:n.13915_13926dup
XM_005269162.4:c.11586_11597dup	XP_005269219.1:p.Gln3866_Gln3867insGlnHisGlnGln
XM_006719614.4:c.11595_11606dup	XP_006719677.1:p.Gln3869_Gln3870insGlnHisGlnGln
XM_006719616.3:c.11583_11594dup	XP_006719679.1:p.Gln3865_Gln3866insGlnHisGlnGln
XM_011538770.2:c.11595_11606dup	XP_011537072.1:p.Gln3869_Gln3870insGlnHisGlnGln
XM_011538771.2:c.11592_11603dup	XP_011537073.1:p.Gln3868_Gln3869insGlnHisGlnGln
XM_011538772.2:c.11586_11597dup	XP_011537074.1:p.Gln3866_Gln3867insGlnHisGlnGln
XM_011538773.2:c.11583_11594dup	XP_011537075.1:p.Gln3865_Gln3866insGlnHisGlnGln
XM_011538774.2:c.11574_11585dup	XP_011537076.1:p.Gln3862_Gln3863insGlnHisGlnGln
XM_011538776.2:c.11502_11513dup	XP_011537078.1:p.Gln3838_Gln3839insGlnHisGlnGln
XR_001748874.1:n.12904_12915dup
NM_003482.4:c.11586_11597dup MANE Select	NP_003473.3:p.Gln3866_Gln3867insGlnHisGlnGln