Canonical Allele Identifier: CA2726154259

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120437858

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033023del , CM000674.2:g.49033023del	GRCh38
NC_000012.11:g.49426806del , CM000674.1:g.49426806del	GRCh37
NC_000012.10:g.47713073del	NCBI36
NG_027827.1:g.27304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11684del	ENSP00000506726.1:p.Gly3895AlafsTer?
ENST00000685166.1:c.11693del	ENSP00000509386.1:p.Gly3898AlafsTer?
ENST00000685554.1:c.1244del	ENSP00000508640.1:p.Gly415AlafsTer?
ENST00000687201.1:c.3263del	ENSP00000510037.1:p.Gly1088AlafsTer?
ENST00000692637.1:c.11681del	ENSP00000509666.1:p.Gly3894AlafsTer?
ENST00000692841.1:c.3163del	ENSP00000508711.1:n.3163del
ENST00000301067.12:c.11684del MANE Select	ENSP00000301067.7:p.Gly3895AlafsTer?
ENST00000301067.11:c.11684del	ENSP00000301067.7:p.Gly3895AlafsTer?
NM_003482.3:c.11684del	NP_003473.3:p.Gly3895AlafsTer?
XM_005269162.3:c.11684del	XP_005269219.1:p.Gly3895AlafsTer?
XM_006719614.2:c.11693del	XP_006719677.1:p.Gly3898AlafsTer?
XM_006719616.2:c.11681del	XP_006719679.1:p.Gly3894AlafsTer?
XM_011538770.1:c.11693del	XP_011537072.1:p.Gly3898AlafsTer?
XM_011538771.1:c.11690del	XP_011537073.1:p.Gly3897AlafsTer?
XM_011538772.1:c.11684del	XP_011537074.1:p.Gly3895AlafsTer?
XM_011538773.1:c.11681del	XP_011537075.1:p.Gly3894AlafsTer?
XM_011538774.1:c.11672del	XP_011537076.1:p.Gly3891AlafsTer?
XM_011538775.1:c.11693del	XP_011537077.1:p.Gly3898AlafsTer?
XM_011538776.1:c.11600del	XP_011537078.1:p.Gly3867AlafsTer?
XR_944740.1:n.14013del
XM_005269162.4:c.11684del	XP_005269219.1:p.Gly3895AlafsTer?
XM_006719614.4:c.11693del	XP_006719677.1:p.Gly3898AlafsTer?
XM_006719616.3:c.11681del	XP_006719679.1:p.Gly3894AlafsTer?
XM_011538770.2:c.11693del	XP_011537072.1:p.Gly3898AlafsTer?
XM_011538771.2:c.11690del	XP_011537073.1:p.Gly3897AlafsTer?
XM_011538772.2:c.11684del	XP_011537074.1:p.Gly3895AlafsTer?
XM_011538773.2:c.11681del	XP_011537075.1:p.Gly3894AlafsTer?
XM_011538774.2:c.11672del	XP_011537076.1:p.Gly3891AlafsTer?
XM_011538776.2:c.11600del	XP_011537078.1:p.Gly3867AlafsTer?
XR_001748874.1:n.13002del
NM_003482.4:c.11684del MANE Select	NP_003473.3:p.Gly3895AlafsTer?