Canonical Allele Identifier: CA2726162130

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120423295

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031722del , CM000674.2:g.49031722del	GRCh38
NC_000012.11:g.49425505del , CM000674.1:g.49425505del	GRCh37
NC_000012.10:g.47711772del	NCBI36
NG_027827.1:g.28605del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683543.2:c.12985del	ENSP00000506726.1:p.Gln4329SerfsTer?
ENST00000685166.1:c.12994del	ENSP00000509386.1:p.Gln4332SerfsTer?
ENST00000685554.1:c.1753-408del	ENSP00000508640.1:n.1753-408del
ENST00000692637.1:c.12982del	ENSP00000509666.1:p.Gln4328SerfsTer?
ENST00000692841.1:c.4464del	ENSP00000508711.1:n.4464del
ENST00000301067.12:c.12985del MANE Select	ENSP00000301067.7:p.Gln4329SerfsTer?
ENST00000301067.11:c.12985del	ENSP00000301067.7:p.Gln4329SerfsTer?
NM_003482.3:c.12985del	NP_003473.3:p.Gln4329SerfsTer?
XM_005269162.3:c.12985del	XP_005269219.1:p.Gln4329SerfsTer?
XM_006719614.2:c.12994del	XP_006719677.1:p.Gln4332SerfsTer?
XM_006719616.2:c.12982del	XP_006719679.1:p.Gln4328SerfsTer?
XM_011538770.1:c.12994del	XP_011537072.1:p.Gln4332SerfsTer?
XM_011538771.1:c.12991del	XP_011537073.1:p.Gln4331SerfsTer?
XM_011538772.1:c.12985del	XP_011537074.1:p.Gln4329SerfsTer?
XM_011538773.1:c.12982del	XP_011537075.1:p.Gln4328SerfsTer?
XM_011538774.1:c.12973del	XP_011537076.1:p.Gln4325SerfsTer?
XM_011538775.1:c.12994del	XP_011537077.1:p.Gln4332SerfsTer?
XM_011538776.1:c.12901del	XP_011537078.1:p.Gln4301SerfsTer?
XR_944740.1:n.15314del
XM_005269162.4:c.12985del	XP_005269219.1:p.Gln4329SerfsTer?
XM_006719614.4:c.12994del	XP_006719677.1:p.Gln4332SerfsTer?
XM_006719616.3:c.12982del	XP_006719679.1:p.Gln4328SerfsTer?
XM_011538770.2:c.12994del	XP_011537072.1:p.Gln4332SerfsTer?
XM_011538771.2:c.12991del	XP_011537073.1:p.Gln4331SerfsTer?
XM_011538772.2:c.12985del	XP_011537074.1:p.Gln4329SerfsTer?
XM_011538773.2:c.12982del	XP_011537075.1:p.Gln4328SerfsTer?
XM_011538774.2:c.12973del	XP_011537076.1:p.Gln4325SerfsTer?
XM_011538776.2:c.12901del	XP_011537078.1:p.Gln4301SerfsTer?
XR_001748874.1:n.14303del
NM_003482.4:c.12985del MANE Select	NP_003473.3:p.Gln4329SerfsTer?