Canonical Allele Identifier: CA2034948331

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042575_49042576delinsCG , CM000674.2:g.49042575_49042576delinsCG	GRCh38
NC_000012.11:g.49436358_49436359delinsCG , CM000674.1:g.49436358_49436359delinsCG	GRCh37
NC_000012.10:g.47722625_47722626delinsCG	NCBI36
NG_027827.1:g.17749_17750delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.664_665delinsCG
ENST00000683543.2:c.5852_5853delinsCG	ENSP00000506726.1:p.Pro1951=
ENST00000685166.1:c.5861_5862delinsCG	ENSP00000509386.1:p.Pro1954=
ENST00000688095.1:c.1801_1802delinsCG	ENSP00000510007.1:n.1801_1802delinsCG
ENST00000692637.1:c.5849_5850delinsCG	ENSP00000509666.1:p.Pro1950=
ENST00000301067.12:c.5852_5853delinsCG MANE Select	ENSP00000301067.7:p.Pro1951=
ENST00000301067.11:c.5852_5853delinsCG	ENSP00000301067.7:p.Pro1951=
NM_003482.3:c.5852_5853delinsCG	NP_003473.3:p.Pro1951=
XM_005269162.3:c.5852_5853delinsCG	XP_005269219.1:p.Pro1951=
XM_006719614.2:c.5861_5862delinsCG	XP_006719677.1:p.Pro1954=
XM_006719616.2:c.5849_5850delinsCG	XP_006719679.1:p.Pro1950=
XM_011538770.1:c.5861_5862delinsCG	XP_011537072.1:p.Pro1954=
XM_011538771.1:c.5858_5859delinsCG	XP_011537073.1:p.Pro1953=
XM_011538772.1:c.5852_5853delinsCG	XP_011537074.1:p.Pro1951=
XM_011538773.1:c.5849_5850delinsCG	XP_011537075.1:p.Pro1950=
XM_011538774.1:c.5861_5862delinsCG	XP_011537076.1:p.Pro1954=
XM_011538775.1:c.5861_5862delinsCG	XP_011537077.1:p.Pro1954=
XM_011538776.1:c.5861_5862delinsCG	XP_011537078.1:p.Pro1954=
XR_944740.1:n.8181_8182delinsCG
XM_005269162.4:c.5852_5853delinsCG	XP_005269219.1:p.Pro1951=
XM_006719614.4:c.5861_5862delinsCG	XP_006719677.1:p.Pro1954=
XM_006719616.3:c.5849_5850delinsCG	XP_006719679.1:p.Pro1950=
XM_011538770.2:c.5861_5862delinsCG	XP_011537072.1:p.Pro1954=
XM_011538771.2:c.5858_5859delinsCG	XP_011537073.1:p.Pro1953=
XM_011538772.2:c.5852_5853delinsCG	XP_011537074.1:p.Pro1951=
XM_011538773.2:c.5849_5850delinsCG	XP_011537075.1:p.Pro1950=
XM_011538774.2:c.5861_5862delinsCG	XP_011537076.1:p.Pro1954=
XM_011538776.2:c.5861_5862delinsCG	XP_011537078.1:p.Pro1954=
XR_001748874.1:n.7170_7171delinsCG
NM_003482.4:c.5852_5853delinsCG MANE Select	NP_003473.3:p.Pro1951=