Canonical Allele Identifier: CA2726327539

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706428

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022638_49022639del , CM000674.2:g.49022638_49022639del	GRCh38
NC_000012.11:g.49416421_49416422del , CM000674.1:g.49416421_49416422del	GRCh37
NC_000012.10:g.47702688_47702689del	NCBI36
NG_027827.1:g.37686_37687del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526209.2:c.259_260del
ENST00000681974.1:n.961_962del
ENST00000682693.1:n.1923_1924del
ENST00000682886.1:n.459_460del
ENST00000683543.2:c.16337_16338del	ENSP00000506726.1:p.Ile5446AsnfsTer28
ENST00000683988.1:c.260_261del	ENSP00000506939.1:p.Ile87AsnfsTer28
ENST00000684428.1:c.824_825del	ENSP00000507433.1:p.Ile275AsnfsTer23
ENST00000684755.1:n.872_873del
ENST00000685024.1:c.1443_1444del
ENST00000685166.1:c.16298_16299del	ENSP00000509386.1:p.Ile5433AsnfsTer28
ENST00000688411.1:c.766_767del	ENSP00000510146.1:n.766_767del
ENST00000691932.1:c.290_291del	ENSP00000509037.1:p.Ile97AsnfsTer28
ENST00000692637.1:c.16286_16287del	ENSP00000509666.1:p.Ile5429AsnfsTer28
ENST00000301067.12:c.16289_16290del MANE Select	ENSP00000301067.7:p.Ile5430AsnfsTer28
ENST00000301067.11:c.16289_16290del	ENSP00000301067.7:p.Ile5430AsnfsTer28
ENST00000526209.1:c.332_333del	ENSP00000435714.1:p.Ile111AsnfsTer28
NM_003482.3:c.16289_16290del	NP_003473.3:p.Ile5430AsnfsTer28
XM_005269162.3:c.16289_16290del	XP_005269219.1:p.Ile5430AsnfsTer28
XM_006719614.2:c.16298_16299del	XP_006719677.1:p.Ile5433AsnfsTer28
XM_006719616.2:c.16286_16287del	XP_006719679.1:p.Ile5429AsnfsTer28
XM_011538770.1:c.16346_16347del	XP_011537072.1:p.Ile5449AsnfsTer28
XM_011538771.1:c.16343_16344del	XP_011537073.1:p.Ile5448AsnfsTer28
XM_011538772.1:c.16337_16338del	XP_011537074.1:p.Ile5446AsnfsTer28
XM_011538773.1:c.16334_16335del	XP_011537075.1:p.Ile5445AsnfsTer28
XM_011538774.1:c.16325_16326del	XP_011537076.1:p.Ile5442AsnfsTer28
XM_011538775.1:c.16280_16281del	XP_011537077.1:p.Ile5427AsnfsTer28
XM_011538776.1:c.16253_16254del	XP_011537078.1:p.Ile5418AsnfsTer28
XM_005269162.4:c.16289_16290del	XP_005269219.1:p.Ile5430AsnfsTer28
XM_006719614.4:c.16298_16299del	XP_006719677.1:p.Ile5433AsnfsTer28
XM_006719616.3:c.16286_16287del	XP_006719679.1:p.Ile5429AsnfsTer28
XM_011538770.2:c.16346_16347del	XP_011537072.1:p.Ile5449AsnfsTer28
XM_011538771.2:c.16343_16344del	XP_011537073.1:p.Ile5448AsnfsTer28
XM_011538772.2:c.16337_16338del	XP_011537074.1:p.Ile5446AsnfsTer28
XM_011538773.2:c.16334_16335del	XP_011537075.1:p.Ile5445AsnfsTer28
XM_011538774.2:c.16325_16326del	XP_011537076.1:p.Ile5442AsnfsTer28
XM_011538776.2:c.16253_16254del	XP_011537078.1:p.Ile5418AsnfsTer28
XR_001748874.1:n.16466_16467del
NM_003482.4:c.16289_16290del MANE Select	NP_003473.3:p.Ile5430AsnfsTer28