Canonical Allele Identifier: CA689527682

Gene: KMT2D

Linked Data

• dbSNP Id: rs1195545294
• gnomAD v4: 12-49039112-G-GGA
• MyVariant Identifiers: chr12:g.49432895_49432896insGA (hg19) ; chr12:g.49039112_49039113insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039112_49039113insGA , CM000674.2:g.49039112_49039113insGA	GRCh38
NC_000012.11:g.49432895_49432896insGA , CM000674.1:g.49432895_49432896insGA	GRCh37
NC_000012.10:g.47719162_47719163insGA	NCBI36
NG_027827.1:g.21212_21213insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.65+109_65+110insTC
ENST00000683543.2:c.8366+109_8366+110insTC	ENSP00000506726.1:n.8366+109_8366+110insTC
ENST00000685166.1:c.8375+109_8375+110insTC	ENSP00000509386.1:n.8375+109_8375+110insTC
ENST00000689143.1:c.2039+109_2039+110insTC	ENSP00000509839.1:n.2039+109_2039+110insTC
ENST00000692637.1:c.8363+109_8363+110insTC	ENSP00000509666.1:n.8363+109_8363+110insTC
ENST00000301067.12:c.8366+109_8366+110insTC MANE Select	ENSP00000301067.7:n.8366+109_8366+110insTC
ENST00000301067.11:c.8366+109_8366+110insTC	ENSP00000301067.7:n.8366+109_8366+110insTC
ENST00000549799.1:n.78+109_78+110insTC
NM_003482.3:c.8366+109_8366+110insTC	NP_003473.3:n.8366+109_8366+110insTC
XM_005269162.3:c.8366+109_8366+110insTC	XP_005269219.1:n.8366+109_8366+110insTC
XM_006719614.2:c.8375+109_8375+110insTC	XP_006719677.1:n.8375+109_8375+110insTC
XM_006719616.2:c.8363+109_8363+110insTC	XP_006719679.1:n.8363+109_8363+110insTC
XM_011538770.1:c.8375+109_8375+110insTC	XP_011537072.1:n.8375+109_8375+110insTC
XM_011538771.1:c.8372+109_8372+110insTC	XP_011537073.1:n.8372+109_8372+110insTC
XM_011538772.1:c.8366+109_8366+110insTC	XP_011537074.1:n.8366+109_8366+110insTC
XM_011538773.1:c.8363+109_8363+110insTC	XP_011537075.1:n.8363+109_8363+110insTC
XM_011538774.1:c.8354+109_8354+110insTC	XP_011537076.1:n.8354+109_8354+110insTC
XM_011538775.1:c.8375+109_8375+110insTC	XP_011537077.1:n.8375+109_8375+110insTC
XM_011538776.1:c.8282+109_8282+110insTC	XP_011537078.1:n.8282+109_8282+110insTC
XR_944740.1:n.10695+109_10695+110insTC
XM_005269162.4:c.8366+109_8366+110insTC	XP_005269219.1:n.8366+109_8366+110insTC
XM_006719614.4:c.8375+109_8375+110insTC	XP_006719677.1:n.8375+109_8375+110insTC
XM_006719616.3:c.8363+109_8363+110insTC	XP_006719679.1:n.8363+109_8363+110insTC
XM_011538770.2:c.8375+109_8375+110insTC	XP_011537072.1:n.8375+109_8375+110insTC
XM_011538771.2:c.8372+109_8372+110insTC	XP_011537073.1:n.8372+109_8372+110insTC
XM_011538772.2:c.8366+109_8366+110insTC	XP_011537074.1:n.8366+109_8366+110insTC
XM_011538773.2:c.8363+109_8363+110insTC	XP_011537075.1:n.8363+109_8363+110insTC
XM_011538774.2:c.8354+109_8354+110insTC	XP_011537076.1:n.8354+109_8354+110insTC
XM_011538776.2:c.8282+109_8282+110insTC	XP_011537078.1:n.8282+109_8282+110insTC
XR_001748874.1:n.9684+109_9684+110insTC
NM_003482.4:c.8366+109_8366+110insTC MANE Select	NP_003473.3:n.8366+109_8366+110insTC