Canonical Allele Identifier: CA479708727

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49426797_49426798insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033014dup , CM000674.2:g.49033014dup	GRCh38
NC_000012.11:g.49426797dup , CM000674.1:g.49426797dup	GRCh37
NC_000012.10:g.47713064dup	NCBI36
NG_027827.1:g.27311dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11691dup	ENSP00000506726.1:p.Gln3898ThrfsTer?
ENST00000685166.1:c.11700dup	ENSP00000509386.1:p.Gln3901ThrfsTer?
ENST00000685554.1:c.1251dup	ENSP00000508640.1:p.Gln418ThrfsTer?
ENST00000687201.1:c.3270dup	ENSP00000510037.1:p.Gln1091ThrfsTer?
ENST00000692637.1:c.11688dup	ENSP00000509666.1:p.Gln3897ThrfsTer?
ENST00000692841.1:c.3170dup	ENSP00000508711.1:n.3170dup
ENST00000301067.12:c.11691dup MANE Select	ENSP00000301067.7:p.Gln3898ThrfsTer?
ENST00000301067.11:c.11691dup	ENSP00000301067.7:p.Gln3898ThrfsTer?
NM_003482.3:c.11691dup	NP_003473.3:p.Gln3898ThrfsTer?
XM_005269162.3:c.11691dup	XP_005269219.1:p.Gln3898ThrfsTer?
XM_006719614.2:c.11700dup	XP_006719677.1:p.Gln3901ThrfsTer?
XM_006719616.2:c.11688dup	XP_006719679.1:p.Gln3897ThrfsTer?
XM_011538770.1:c.11700dup	XP_011537072.1:p.Gln3901ThrfsTer?
XM_011538771.1:c.11697dup	XP_011537073.1:p.Gln3900ThrfsTer?
XM_011538772.1:c.11691dup	XP_011537074.1:p.Gln3898ThrfsTer?
XM_011538773.1:c.11688dup	XP_011537075.1:p.Gln3897ThrfsTer?
XM_011538774.1:c.11679dup	XP_011537076.1:p.Gln3894ThrfsTer?
XM_011538775.1:c.11700dup	XP_011537077.1:p.Gln3901ThrfsTer?
XM_011538776.1:c.11607dup	XP_011537078.1:p.Gln3870ThrfsTer?
XR_944740.1:n.14020dup
XM_005269162.4:c.11691dup	XP_005269219.1:p.Gln3898ThrfsTer?
XM_006719614.4:c.11700dup	XP_006719677.1:p.Gln3901ThrfsTer?
XM_006719616.3:c.11688dup	XP_006719679.1:p.Gln3897ThrfsTer?
XM_011538770.2:c.11700dup	XP_011537072.1:p.Gln3901ThrfsTer?
XM_011538771.2:c.11697dup	XP_011537073.1:p.Gln3900ThrfsTer?
XM_011538772.2:c.11691dup	XP_011537074.1:p.Gln3898ThrfsTer?
XM_011538773.2:c.11688dup	XP_011537075.1:p.Gln3897ThrfsTer?
XM_011538774.2:c.11679dup	XP_011537076.1:p.Gln3894ThrfsTer?
XM_011538776.2:c.11607dup	XP_011537078.1:p.Gln3870ThrfsTer?
XR_001748874.1:n.13009dup
NM_003482.4:c.11691dup MANE Select	NP_003473.3:p.Gln3898ThrfsTer?