Canonical Allele Identifier: CA271615

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 158744
• ClinVar RCV Id: RCV000146185 ; RCV000724586 ; RCV000818696
• dbSNP Id: rs587783703
• MyVariant Identifiers: chr12:g.49415906_49415909del (hg19) ; chr12:g.49022123_49022126del (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022125_49022128del , CM000674.2:g.49022125_49022128del	GRCh38
NC_000012.11:g.49415908_49415911del , CM000674.1:g.49415908_49415911del	GRCh37
NC_000012.10:g.47702175_47702178del	NCBI36
NG_027827.1:g.38199_38202del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526209.2:c.408_411del
ENST00000681974.1:n.1110_1113del
ENST00000682693.1:n.2072_2075del
ENST00000682886.1:n.844_847del
ENST00000683543.2:c.16486_16489del	ENSP00000506726.1:p.Asn5496ValfsTer6
ENST00000683988.1:c.409_412del	ENSP00000506939.1:p.Asn137ValfsTer6
ENST00000684428.1:c.1031_1034del	ENSP00000507433.1:n.1031_1034del
ENST00000685024.1:c.1592_1595del
ENST00000685166.1:c.16447_16450del	ENSP00000509386.1:p.Asn5483ValfsTer6
ENST00000691932.1:c.439_442del	ENSP00000509037.1:p.Asn147ValfsTer6
ENST00000692637.1:c.16435_16438del	ENSP00000509666.1:p.Asn5479ValfsTer6
ENST00000301067.12:c.16438_16441del MANE Select	ENSP00000301067.7:p.Asn5480ValfsTer6
ENST00000301067.11:c.16438_16441del	ENSP00000301067.7:p.Asn5480ValfsTer6
ENST00000526209.1:c.481_484del	ENSP00000435714.1:p.Asn161ValfsTer6
NM_003482.3:c.16438_16441del	NP_003473.3:p.Asn5480ValfsTer6
XM_005269162.3:c.16438_16441del	XP_005269219.1:p.Asn5480ValfsTer6
XM_006719614.2:c.16447_16450del	XP_006719677.1:p.Asn5483ValfsTer6
XM_006719616.2:c.16435_16438del	XP_006719679.1:p.Asn5479ValfsTer6
XM_011538770.1:c.16495_16498del	XP_011537072.1:p.Asn5499ValfsTer6
XM_011538771.1:c.16492_16495del	XP_011537073.1:p.Asn5498ValfsTer6
XM_011538772.1:c.16486_16489del	XP_011537074.1:p.Asn5496ValfsTer6
XM_011538773.1:c.16483_16486del	XP_011537075.1:p.Asn5495ValfsTer6
XM_011538774.1:c.16474_16477del	XP_011537076.1:p.Asn5492ValfsTer6
XM_011538775.1:c.16429_16432del	XP_011537077.1:p.Asn5477ValfsTer6
XM_011538776.1:c.16402_16405del	XP_011537078.1:p.Asn5468ValfsTer6
XM_005269162.4:c.16438_16441del	XP_005269219.1:p.Asn5480ValfsTer6
XM_006719614.4:c.16447_16450del	XP_006719677.1:p.Asn5483ValfsTer6
XM_006719616.3:c.16435_16438del	XP_006719679.1:p.Asn5479ValfsTer6
XM_011538770.2:c.16495_16498del	XP_011537072.1:p.Asn5499ValfsTer6
XM_011538771.2:c.16492_16495del	XP_011537073.1:p.Asn5498ValfsTer6
XM_011538772.2:c.16486_16489del	XP_011537074.1:p.Asn5496ValfsTer6
XM_011538773.2:c.16483_16486del	XP_011537075.1:p.Asn5495ValfsTer6
XM_011538774.2:c.16474_16477del	XP_011537076.1:p.Asn5492ValfsTer6
XM_011538776.2:c.16402_16405del	XP_011537078.1:p.Asn5468ValfsTer6
XR_001748874.1:n.16615_16618del
NM_003482.4:c.16438_16441del MANE Select	NP_003473.3:p.Asn5480ValfsTer6