Canonical Allele Identifier: CA605233627

Gene: KMT2D

Linked Data

• dbSNP Id: rs1247982124
• gnomAD v2: 12-49426805-C-CCATG
• gnomAD v4: 12-49033022-C-CCATG
• MyVariant Identifiers: chr12:g.49426805_49426806insCATG (hg19) ; chr12:g.49033022_49033023insCATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033023_49033026dup , CM000674.2:g.49033023_49033026dup	GRCh38
NC_000012.11:g.49426806_49426809dup , CM000674.1:g.49426806_49426809dup	GRCh37
NC_000012.10:g.47713073_47713076dup	NCBI36
NG_027827.1:g.27299_27302dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11679_11682dup	ENSP00000506726.1:p.Gly3895HisfsTer?
ENST00000685166.1:c.11688_11691dup	ENSP00000509386.1:p.Gly3898HisfsTer?
ENST00000685554.1:c.1239_1242dup	ENSP00000508640.1:p.Gly415HisfsTer?
ENST00000687201.1:c.3258_3261dup	ENSP00000510037.1:p.Gly1088HisfsTer?
ENST00000692637.1:c.11676_11679dup	ENSP00000509666.1:p.Gly3894HisfsTer?
ENST00000692841.1:c.3158_3161dup	ENSP00000508711.1:n.3158_3161dup
ENST00000301067.12:c.11679_11682dup MANE Select	ENSP00000301067.7:p.Gly3895HisfsTer?
ENST00000301067.11:c.11679_11682dup	ENSP00000301067.7:p.Gly3895HisfsTer?
NM_003482.3:c.11679_11682dup	NP_003473.3:p.Gly3895HisfsTer?
XM_005269162.3:c.11679_11682dup	XP_005269219.1:p.Gly3895HisfsTer?
XM_006719614.2:c.11688_11691dup	XP_006719677.1:p.Gly3898HisfsTer?
XM_006719616.2:c.11676_11679dup	XP_006719679.1:p.Gly3894HisfsTer?
XM_011538770.1:c.11688_11691dup	XP_011537072.1:p.Gly3898HisfsTer?
XM_011538771.1:c.11685_11688dup	XP_011537073.1:p.Gly3897HisfsTer?
XM_011538772.1:c.11679_11682dup	XP_011537074.1:p.Gly3895HisfsTer?
XM_011538773.1:c.11676_11679dup	XP_011537075.1:p.Gly3894HisfsTer?
XM_011538774.1:c.11667_11670dup	XP_011537076.1:p.Gly3891HisfsTer?
XM_011538775.1:c.11688_11691dup	XP_011537077.1:p.Gly3898HisfsTer?
XM_011538776.1:c.11595_11598dup	XP_011537078.1:p.Gly3867HisfsTer?
XR_944740.1:n.14008_14011dup
XM_005269162.4:c.11679_11682dup	XP_005269219.1:p.Gly3895HisfsTer?
XM_006719614.4:c.11688_11691dup	XP_006719677.1:p.Gly3898HisfsTer?
XM_006719616.3:c.11676_11679dup	XP_006719679.1:p.Gly3894HisfsTer?
XM_011538770.2:c.11688_11691dup	XP_011537072.1:p.Gly3898HisfsTer?
XM_011538771.2:c.11685_11688dup	XP_011537073.1:p.Gly3897HisfsTer?
XM_011538772.2:c.11679_11682dup	XP_011537074.1:p.Gly3895HisfsTer?
XM_011538773.2:c.11676_11679dup	XP_011537075.1:p.Gly3894HisfsTer?
XM_011538774.2:c.11667_11670dup	XP_011537076.1:p.Gly3891HisfsTer?
XM_011538776.2:c.11595_11598dup	XP_011537078.1:p.Gly3867HisfsTer?
XR_001748874.1:n.12997_13000dup
NM_003482.4:c.11679_11682dup MANE Select	NP_003473.3:p.Gly3895HisfsTer?