Canonical Allele Identifier: CA2034958853

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039082_49039083delinsAG , CM000674.2:g.49039082_49039083delinsAG	GRCh38
NC_000012.11:g.49432865_49432866delinsAG , CM000674.1:g.49432865_49432866delinsAG	GRCh37
NC_000012.10:g.47719132_47719133delinsAG	NCBI36
NG_027827.1:g.21242_21243delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.66-94_66-93delinsCT
ENST00000683543.2:c.8367-94_8367-93delinsCT	ENSP00000506726.1:n.8367-94_8367-93delinsCT
ENST00000685166.1:c.8376-94_8376-93delinsCT	ENSP00000509386.1:n.8376-94_8376-93delinsCT
ENST00000689143.1:c.2039+139_2039+140delinsCT	ENSP00000509839.1:n.2039+139_2039+140delinsCT
ENST00000692637.1:c.8364-94_8364-93delinsCT	ENSP00000509666.1:n.8364-94_8364-93delinsCT
ENST00000301067.12:c.8367-94_8367-93delinsCT MANE Select	ENSP00000301067.7:n.8367-94_8367-93delinsCT
ENST00000301067.11:c.8367-94_8367-93delinsCT	ENSP00000301067.7:n.8367-94_8367-93delinsCT
ENST00000549799.1:n.78+139_78+140delinsCT
NM_003482.3:c.8367-94_8367-93delinsCT	NP_003473.3:n.8367-94_8367-93delinsCT
XM_005269162.3:c.8367-94_8367-93delinsCT	XP_005269219.1:n.8367-94_8367-93delinsCT
XM_006719614.2:c.8376-94_8376-93delinsCT	XP_006719677.1:n.8376-94_8376-93delinsCT
XM_006719616.2:c.8364-94_8364-93delinsCT	XP_006719679.1:n.8364-94_8364-93delinsCT
XM_011538770.1:c.8376-94_8376-93delinsCT	XP_011537072.1:n.8376-94_8376-93delinsCT
XM_011538771.1:c.8373-94_8373-93delinsCT	XP_011537073.1:n.8373-94_8373-93delinsCT
XM_011538772.1:c.8367-94_8367-93delinsCT	XP_011537074.1:n.8367-94_8367-93delinsCT
XM_011538773.1:c.8364-94_8364-93delinsCT	XP_011537075.1:n.8364-94_8364-93delinsCT
XM_011538774.1:c.8355-94_8355-93delinsCT	XP_011537076.1:n.8355-94_8355-93delinsCT
XM_011538775.1:c.8376-94_8376-93delinsCT	XP_011537077.1:n.8376-94_8376-93delinsCT
XM_011538776.1:c.8283-94_8283-93delinsCT	XP_011537078.1:n.8283-94_8283-93delinsCT
XR_944740.1:n.10696-94_10696-93delinsCT
XM_005269162.4:c.8367-94_8367-93delinsCT	XP_005269219.1:n.8367-94_8367-93delinsCT
XM_006719614.4:c.8376-94_8376-93delinsCT	XP_006719677.1:n.8376-94_8376-93delinsCT
XM_006719616.3:c.8364-94_8364-93delinsCT	XP_006719679.1:n.8364-94_8364-93delinsCT
XM_011538770.2:c.8376-94_8376-93delinsCT	XP_011537072.1:n.8376-94_8376-93delinsCT
XM_011538771.2:c.8373-94_8373-93delinsCT	XP_011537073.1:n.8373-94_8373-93delinsCT
XM_011538772.2:c.8367-94_8367-93delinsCT	XP_011537074.1:n.8367-94_8367-93delinsCT
XM_011538773.2:c.8364-94_8364-93delinsCT	XP_011537075.1:n.8364-94_8364-93delinsCT
XM_011538774.2:c.8355-94_8355-93delinsCT	XP_011537076.1:n.8355-94_8355-93delinsCT
XM_011538776.2:c.8283-94_8283-93delinsCT	XP_011537078.1:n.8283-94_8283-93delinsCT
XR_001748874.1:n.9685-94_9685-93delinsCT
NM_003482.4:c.8367-94_8367-93delinsCT MANE Select	NP_003473.3:n.8367-94_8367-93delinsCT