Canonical Allele Identifier: CA2618607173

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49024679-ATAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024681_49024683del , CM000674.2:g.49024681_49024683del	GRCh38
NC_000012.11:g.49418464_49418466del , CM000674.1:g.49418464_49418466del	GRCh37
NC_000012.10:g.47704731_47704733del	NCBI36
NG_027827.1:g.35643_35645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.620_622del
ENST00000683543.2:c.15948_15950del	ENSP00000506726.1:p.Tyr5317del
ENST00000683863.1:n.1663_1665del
ENST00000684428.1:c.483_485del	ENSP00000507433.1:p.Tyr162del
ENST00000684755.1:n.483_485del
ENST00000685024.1:c.1102_1104del
ENST00000685166.1:c.15957_15959del	ENSP00000509386.1:p.Tyr5320del
ENST00000688411.1:c.425_427del	ENSP00000510146.1:n.425_427del
ENST00000691932.1:c.27_29del	ENSP00000509037.1:p.Tyr10del
ENST00000692637.1:c.15945_15947del	ENSP00000509666.1:p.Tyr5316del
ENST00000301067.12:c.15948_15950del MANE Select	ENSP00000301067.7:p.Tyr5317del
ENST00000301067.11:c.15948_15950del	ENSP00000301067.7:p.Tyr5317del
NM_003482.3:c.15948_15950del	NP_003473.3:p.Tyr5317del
XM_005269162.3:c.15948_15950del	XP_005269219.1:p.Tyr5317del
XM_006719614.2:c.15957_15959del	XP_006719677.1:p.Tyr5320del
XM_006719616.2:c.15945_15947del	XP_006719679.1:p.Tyr5316del
XM_011538770.1:c.15957_15959del	XP_011537072.1:p.Tyr5320del
XM_011538771.1:c.15954_15956del	XP_011537073.1:p.Tyr5319del
XM_011538772.1:c.15948_15950del	XP_011537074.1:p.Tyr5317del
XM_011538773.1:c.15945_15947del	XP_011537075.1:p.Tyr5316del
XM_011538774.1:c.15936_15938del	XP_011537076.1:p.Tyr5313del
XM_011538775.1:c.15891_15893del	XP_011537077.1:p.Tyr5298del
XM_011538776.1:c.15864_15866del	XP_011537078.1:p.Tyr5289del
XM_005269162.4:c.15948_15950del	XP_005269219.1:p.Tyr5317del
XM_006719614.4:c.15957_15959del	XP_006719677.1:p.Tyr5320del
XM_006719616.3:c.15945_15947del	XP_006719679.1:p.Tyr5316del
XM_011538770.2:c.15957_15959del	XP_011537072.1:p.Tyr5320del
XM_011538771.2:c.15954_15956del	XP_011537073.1:p.Tyr5319del
XM_011538772.2:c.15948_15950del	XP_011537074.1:p.Tyr5317del
XM_011538773.2:c.15945_15947del	XP_011537075.1:p.Tyr5316del
XM_011538774.2:c.15936_15938del	XP_011537076.1:p.Tyr5313del
XM_011538776.2:c.15864_15866del	XP_011537078.1:p.Tyr5289del
XR_001748874.1:n.16125_16127del
NM_003482.4:c.15948_15950del MANE Select	NP_003473.3:p.Tyr5317del