Canonical Allele Identifier: CA2034948173

Gene: KMT2D

Linked Data

• dbSNP Id: rs1943582637

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042400_49042401insT , CM000674.2:g.49042400_49042401insT	GRCh38
NC_000012.11:g.49436183_49436184insT , CM000674.1:g.49436183_49436184insT	GRCh37
NC_000012.10:g.47722450_47722451insT	NCBI36
NG_027827.1:g.17924_17925insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.680-92_680-91insA
ENST00000683543.2:c.5868-71_5868-70insA	ENSP00000506726.1:n.5868-71_5868-70insA
ENST00000685166.1:c.5877-71_5877-70insA	ENSP00000509386.1:n.5877-71_5877-70insA
ENST00000692637.1:c.5865-71_5865-70insA	ENSP00000509666.1:n.5865-71_5865-70insA
ENST00000301067.12:c.5868-71_5868-70insA MANE Select	ENSP00000301067.7:n.5868-71_5868-70insA
ENST00000301067.11:c.5868-71_5868-70insA	ENSP00000301067.7:n.5868-71_5868-70insA
NM_003482.3:c.5868-71_5868-70insA	NP_003473.3:n.5868-71_5868-70insA
XM_005269162.3:c.5868-71_5868-70insA	XP_005269219.1:n.5868-71_5868-70insA
XM_006719614.2:c.5877-71_5877-70insA	XP_006719677.1:n.5877-71_5877-70insA
XM_006719616.2:c.5865-71_5865-70insA	XP_006719679.1:n.5865-71_5865-70insA
XM_011538770.1:c.5877-71_5877-70insA	XP_011537072.1:n.5877-71_5877-70insA
XM_011538771.1:c.5874-71_5874-70insA	XP_011537073.1:n.5874-71_5874-70insA
XM_011538772.1:c.5868-71_5868-70insA	XP_011537074.1:n.5868-71_5868-70insA
XM_011538773.1:c.5865-71_5865-70insA	XP_011537075.1:n.5865-71_5865-70insA
XM_011538774.1:c.5877-92_5877-91insA	XP_011537076.1:n.5877-92_5877-91insA
XM_011538775.1:c.5877-71_5877-70insA	XP_011537077.1:n.5877-71_5877-70insA
XM_011538776.1:c.5877-71_5877-70insA	XP_011537078.1:n.5877-71_5877-70insA
XR_944740.1:n.8197-71_8197-70insA
XM_005269162.4:c.5868-71_5868-70insA	XP_005269219.1:n.5868-71_5868-70insA
XM_006719614.4:c.5877-71_5877-70insA	XP_006719677.1:n.5877-71_5877-70insA
XM_006719616.3:c.5865-71_5865-70insA	XP_006719679.1:n.5865-71_5865-70insA
XM_011538770.2:c.5877-71_5877-70insA	XP_011537072.1:n.5877-71_5877-70insA
XM_011538771.2:c.5874-71_5874-70insA	XP_011537073.1:n.5874-71_5874-70insA
XM_011538772.2:c.5868-71_5868-70insA	XP_011537074.1:n.5868-71_5868-70insA
XM_011538773.2:c.5865-71_5865-70insA	XP_011537075.1:n.5865-71_5865-70insA
XM_011538774.2:c.5877-92_5877-91insA	XP_011537076.1:n.5877-92_5877-91insA
XM_011538776.2:c.5877-71_5877-70insA	XP_011537078.1:n.5877-71_5877-70insA
XR_001748874.1:n.7186-71_7186-70insA
NM_003482.4:c.5868-71_5868-70insA MANE Select	NP_003473.3:n.5868-71_5868-70insA