Canonical Allele Identifier: CA2034964170

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024827_49024829delinsGCA , CM000674.2:g.49024827_49024829delinsGCA	GRCh38
NC_000012.11:g.49418610_49418612delinsGCA , CM000674.1:g.49418610_49418612delinsGCA	GRCh37
NC_000012.10:g.47704877_47704879delinsGCA	NCBI36
NG_027827.1:g.35496_35498delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.574_576delinsTGC
ENST00000683543.2:c.15902_15904delinsTGC	ENSP00000506726.1:p.Val5301=
ENST00000683863.1:n.1617_1619delinsTGC
ENST00000684428.1:c.437_439delinsTGC	ENSP00000507433.1:p.Val146=
ENST00000684755.1:n.437_439delinsTGC
ENST00000685024.1:c.1027_1029delinsTGC
ENST00000685166.1:c.15911_15913delinsTGC	ENSP00000509386.1:p.Val5304=
ENST00000688411.1:c.379_381delinsTGC	ENSP00000510146.1:n.379_381delinsTGC
ENST00000691463.1:c.1288_1290delinsTGC	ENSP00000510624.1:n.1288_1290delinsTGC
ENST00000692637.1:c.15899_15901delinsTGC	ENSP00000509666.1:p.Val5300=
ENST00000301067.12:c.15902_15904delinsTGC MANE Select	ENSP00000301067.7:p.Val5301=
ENST00000301067.11:c.15902_15904delinsTGC	ENSP00000301067.7:p.Val5301=
NM_003482.3:c.15902_15904delinsTGC	NP_003473.3:p.Val5301=
XM_005269162.3:c.15902_15904delinsTGC	XP_005269219.1:p.Val5301=
XM_006719614.2:c.15911_15913delinsTGC	XP_006719677.1:p.Val5304=
XM_006719616.2:c.15899_15901delinsTGC	XP_006719679.1:p.Val5300=
XM_011538770.1:c.15911_15913delinsTGC	XP_011537072.1:p.Val5304=
XM_011538771.1:c.15908_15910delinsTGC	XP_011537073.1:p.Val5303=
XM_011538772.1:c.15902_15904delinsTGC	XP_011537074.1:p.Val5301=
XM_011538773.1:c.15899_15901delinsTGC	XP_011537075.1:p.Val5300=
XM_011538774.1:c.15890_15892delinsTGC	XP_011537076.1:p.Val5297=
XM_011538775.1:c.15845_15847delinsTGC	XP_011537077.1:p.Val5282=
XM_011538776.1:c.15818_15820delinsTGC	XP_011537078.1:p.Val5273=
XR_944740.1:n.17090_17092delinsTGC
XM_005269162.4:c.15902_15904delinsTGC	XP_005269219.1:p.Val5301=
XM_006719614.4:c.15911_15913delinsTGC	XP_006719677.1:p.Val5304=
XM_006719616.3:c.15899_15901delinsTGC	XP_006719679.1:p.Val5300=
XM_011538770.2:c.15911_15913delinsTGC	XP_011537072.1:p.Val5304=
XM_011538771.2:c.15908_15910delinsTGC	XP_011537073.1:p.Val5303=
XM_011538772.2:c.15902_15904delinsTGC	XP_011537074.1:p.Val5301=
XM_011538773.2:c.15899_15901delinsTGC	XP_011537075.1:p.Val5300=
XM_011538774.2:c.15890_15892delinsTGC	XP_011537076.1:p.Val5297=
XM_011538776.2:c.15818_15820delinsTGC	XP_011537078.1:p.Val5273=
XR_001748874.1:n.16079_16081delinsTGC
NM_003482.4:c.15902_15904delinsTGC MANE Select	NP_003473.3:p.Val5301=