Canonical Allele Identifier: CA271647

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 158775
• ClinVar RCV Id: RCV000146219
• dbSNP Id: rs587783723
• MyVariant Identifiers: chr12:g.49435895del (hg19) ; chr12:g.49042112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042113del , CM000674.2:g.49042113del	GRCh38
NC_000012.11:g.49435896del , CM000674.1:g.49435896del	GRCh37
NC_000012.10:g.47722163del	NCBI36
NG_027827.1:g.18213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.877del
ENST00000683543.2:c.6086del	ENSP00000506726.1:p.Pro2029LeufsTer18
ENST00000685166.1:c.6095del	ENSP00000509386.1:p.Pro2032LeufsTer18
ENST00000689060.1:c.198del
ENST00000689944.1:c.198del
ENST00000692637.1:c.6083del	ENSP00000509666.1:p.Pro2028LeufsTer18
ENST00000301067.12:c.6086del MANE Select	ENSP00000301067.7:p.Pro2029LeufsTer18
ENST00000301067.11:c.6086del	ENSP00000301067.7:p.Pro2029LeufsTer18
NM_003482.3:c.6086del	NP_003473.3:p.Pro2029LeufsTer18
XM_005269162.3:c.6086del	XP_005269219.1:p.Pro2029LeufsTer18
XM_006719614.2:c.6095del	XP_006719677.1:p.Pro2032LeufsTer18
XM_006719616.2:c.6083del	XP_006719679.1:p.Pro2028LeufsTer18
XM_011538770.1:c.6095del	XP_011537072.1:p.Pro2032LeufsTer18
XM_011538771.1:c.6092del	XP_011537073.1:p.Pro2031LeufsTer18
XM_011538772.1:c.6086del	XP_011537074.1:p.Pro2029LeufsTer18
XM_011538773.1:c.6083del	XP_011537075.1:p.Pro2028LeufsTer18
XM_011538774.1:c.6074del	XP_011537076.1:p.Pro2025LeufsTer18
XM_011538775.1:c.6095del	XP_011537077.1:p.Pro2032LeufsTer18
XM_011538776.1:c.6095del	XP_011537078.1:p.Pro2032LeufsTer18
XR_944740.1:n.8415del
XM_005269162.4:c.6086del	XP_005269219.1:p.Pro2029LeufsTer18
XM_006719614.4:c.6095del	XP_006719677.1:p.Pro2032LeufsTer18
XM_006719616.3:c.6083del	XP_006719679.1:p.Pro2028LeufsTer18
XM_011538770.2:c.6095del	XP_011537072.1:p.Pro2032LeufsTer18
XM_011538771.2:c.6092del	XP_011537073.1:p.Pro2031LeufsTer18
XM_011538772.2:c.6086del	XP_011537074.1:p.Pro2029LeufsTer18
XM_011538773.2:c.6083del	XP_011537075.1:p.Pro2028LeufsTer18
XM_011538774.2:c.6074del	XP_011537076.1:p.Pro2025LeufsTer18
XM_011538776.2:c.6095del	XP_011537078.1:p.Pro2032LeufsTer18
XR_001748874.1:n.7404del
NM_003482.4:c.6086del MANE Select	NP_003473.3:p.Pro2029LeufsTer18