Canonical Allele Identifier: CA658823371

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 547510
• ClinVar RCV Id: RCV000659835
• dbSNP Id: rs1555184635
• MyVariant Identifiers: chr12:g.49415910del (hg19) ; chr12:g.49022127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022127del , CM000674.2:g.49022127del	GRCh38
NC_000012.11:g.49415910del , CM000674.1:g.49415910del	GRCh37
NC_000012.10:g.47702177del	NCBI36
NG_027827.1:g.38198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.407del
ENST00000681974.1:n.1109del
ENST00000682693.1:n.2071del
ENST00000682886.1:n.843del
ENST00000683543.2:c.16485del	ENSP00000506726.1:p.Asn5496ThrfsTer7
ENST00000683988.1:c.408del	ENSP00000506939.1:p.Asn137ThrfsTer7
ENST00000684428.1:c.1030del	ENSP00000507433.1:n.1030del
ENST00000685024.1:c.1591del
ENST00000685166.1:c.16446del	ENSP00000509386.1:p.Asn5483ThrfsTer7
ENST00000691932.1:c.438del	ENSP00000509037.1:p.Asn147ThrfsTer7
ENST00000692637.1:c.16434del	ENSP00000509666.1:p.Asn5479ThrfsTer7
ENST00000301067.12:c.16437del MANE Select	ENSP00000301067.7:p.Asn5480ThrfsTer7
ENST00000301067.11:c.16437del	ENSP00000301067.7:p.Asn5480ThrfsTer7
ENST00000526209.1:c.480del	ENSP00000435714.1:p.Asn161ThrfsTer7
NM_003482.3:c.16437del	NP_003473.3:p.Asn5480ThrfsTer7
XM_005269162.3:c.16437del	XP_005269219.1:p.Asn5480ThrfsTer7
XM_006719614.2:c.16446del	XP_006719677.1:p.Asn5483ThrfsTer7
XM_006719616.2:c.16434del	XP_006719679.1:p.Asn5479ThrfsTer7
XM_011538770.1:c.16494del	XP_011537072.1:p.Asn5499ThrfsTer7
XM_011538771.1:c.16491del	XP_011537073.1:p.Asn5498ThrfsTer7
XM_011538772.1:c.16485del	XP_011537074.1:p.Asn5496ThrfsTer7
XM_011538773.1:c.16482del	XP_011537075.1:p.Asn5495ThrfsTer7
XM_011538774.1:c.16473del	XP_011537076.1:p.Asn5492ThrfsTer7
XM_011538775.1:c.16428del	XP_011537077.1:p.Asn5477ThrfsTer7
XM_011538776.1:c.16401del	XP_011537078.1:p.Asn5468ThrfsTer7
XM_005269162.4:c.16437del	XP_005269219.1:p.Asn5480ThrfsTer7
XM_006719614.4:c.16446del	XP_006719677.1:p.Asn5483ThrfsTer7
XM_006719616.3:c.16434del	XP_006719679.1:p.Asn5479ThrfsTer7
XM_011538770.2:c.16494del	XP_011537072.1:p.Asn5499ThrfsTer7
XM_011538771.2:c.16491del	XP_011537073.1:p.Asn5498ThrfsTer7
XM_011538772.2:c.16485del	XP_011537074.1:p.Asn5496ThrfsTer7
XM_011538773.2:c.16482del	XP_011537075.1:p.Asn5495ThrfsTer7
XM_011538774.2:c.16473del	XP_011537076.1:p.Asn5492ThrfsTer7
XM_011538776.2:c.16401del	XP_011537078.1:p.Asn5468ThrfsTer7
XR_001748874.1:n.16614del
NM_003482.4:c.16437del MANE Select	NP_003473.3:p.Asn5480ThrfsTer7