Canonical Allele Identifier: CA605233625

Gene: KMT2D

Linked Data

• dbSNP Id: rs1289849074
• gnomAD v2: 12-49426755-TTGCTGTTGCTGTTGCAGCTGCTGCTGCTGCTGAAGC-T
• gnomAD v4: 12-49032972-TTGCTGTTGCTGTTGCAGCTGCTGCTGCTGCTGAAGC-T
• MyVariant Identifiers: chr12:g.49426756_49426791del (hg19) ; chr12:g.49032973_49033008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032979_49033014del , CM000674.2:g.49032979_49033014del	GRCh38
NC_000012.11:g.49426762_49426797del , CM000674.1:g.49426762_49426797del	GRCh37
NC_000012.10:g.47713029_47713064del	NCBI36
NG_027827.1:g.27317_27352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11697_11732del	ENSP00000506726.1:p.Leu3900_Gln3911del
ENST00000685166.1:c.11706_11741del	ENSP00000509386.1:p.Leu3903_Gln3914del
ENST00000685554.1:c.1257_1292del	ENSP00000508640.1:p.Leu420_Gln431del
ENST00000687201.1:c.3276_3311del	ENSP00000510037.1:p.Leu1093_Gln1104del
ENST00000692637.1:c.11694_11729del	ENSP00000509666.1:p.Leu3899_Gln3910del
ENST00000692841.1:c.3176_3211del	ENSP00000508711.1:n.3176_3211del
ENST00000301067.12:c.11697_11732del MANE Select	ENSP00000301067.7:p.Leu3900_Gln3911del
ENST00000301067.11:c.11697_11732del	ENSP00000301067.7:p.Leu3900_Gln3911del
NM_003482.3:c.11697_11732del	NP_003473.3:p.Leu3900_Gln3911del
XM_005269162.3:c.11697_11732del	XP_005269219.1:p.Leu3900_Gln3911del
XM_006719614.2:c.11706_11741del	XP_006719677.1:p.Leu3903_Gln3914del
XM_006719616.2:c.11694_11729del	XP_006719679.1:p.Leu3899_Gln3910del
XM_011538770.1:c.11706_11741del	XP_011537072.1:p.Leu3903_Gln3914del
XM_011538771.1:c.11703_11738del	XP_011537073.1:p.Leu3902_Gln3913del
XM_011538772.1:c.11697_11732del	XP_011537074.1:p.Leu3900_Gln3911del
XM_011538773.1:c.11694_11729del	XP_011537075.1:p.Leu3899_Gln3910del
XM_011538774.1:c.11685_11720del	XP_011537076.1:p.Leu3896_Gln3907del
XM_011538775.1:c.11706_11741del	XP_011537077.1:p.Leu3903_Gln3914del
XM_011538776.1:c.11613_11648del	XP_011537078.1:p.Leu3872_Gln3883del
XR_944740.1:n.14026_14061del
XM_005269162.4:c.11697_11732del	XP_005269219.1:p.Leu3900_Gln3911del
XM_006719614.4:c.11706_11741del	XP_006719677.1:p.Leu3903_Gln3914del
XM_006719616.3:c.11694_11729del	XP_006719679.1:p.Leu3899_Gln3910del
XM_011538770.2:c.11706_11741del	XP_011537072.1:p.Leu3903_Gln3914del
XM_011538771.2:c.11703_11738del	XP_011537073.1:p.Leu3902_Gln3913del
XM_011538772.2:c.11697_11732del	XP_011537074.1:p.Leu3900_Gln3911del
XM_011538773.2:c.11694_11729del	XP_011537075.1:p.Leu3899_Gln3910del
XM_011538774.2:c.11685_11720del	XP_011537076.1:p.Leu3896_Gln3907del
XM_011538776.2:c.11613_11648del	XP_011537078.1:p.Leu3872_Gln3883del
XR_001748874.1:n.13015_13050del
NM_003482.4:c.11697_11732del MANE Select	NP_003473.3:p.Leu3900_Gln3911del