Canonical Allele Identifier: CA2499221716

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1071461
• ClinVar RCV Id: RCV001383940
• dbSNP Id: rs2120552933

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042114_49042127del , CM000674.2:g.49042114_49042127del	GRCh38
NC_000012.11:g.49435897_49435910del , CM000674.1:g.49435897_49435910del	GRCh37
NC_000012.10:g.47722164_47722177del	NCBI36
NG_027827.1:g.18200_18213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.864_877del
ENST00000683543.2:c.6073_6086del	ENSP00000506726.1:p.Asn2025Ter
ENST00000685166.1:c.6082_6095del	ENSP00000509386.1:p.Asn2028Ter
ENST00000689060.1:c.185_198del
ENST00000689944.1:c.185_198del
ENST00000692637.1:c.6070_6083del	ENSP00000509666.1:p.Asn2024Ter
ENST00000301067.12:c.6073_6086del MANE Select	ENSP00000301067.7:p.Asn2025Ter
ENST00000301067.11:c.6073_6086del	ENSP00000301067.7:p.Asn2025Ter
NM_003482.3:c.6073_6086del	NP_003473.3:p.Asn2025Ter
XM_005269162.3:c.6073_6086del	XP_005269219.1:p.Asn2025Ter
XM_006719614.2:c.6082_6095del	XP_006719677.1:p.Asn2028Ter
XM_006719616.2:c.6070_6083del	XP_006719679.1:p.Asn2024Ter
XM_011538770.1:c.6082_6095del	XP_011537072.1:p.Asn2028Ter
XM_011538771.1:c.6079_6092del	XP_011537073.1:p.Asn2027Ter
XM_011538772.1:c.6073_6086del	XP_011537074.1:p.Asn2025Ter
XM_011538773.1:c.6070_6083del	XP_011537075.1:p.Asn2024Ter
XM_011538774.1:c.6061_6074del	XP_011537076.1:p.Asn2021Ter
XM_011538775.1:c.6082_6095del	XP_011537077.1:p.Asn2028Ter
XM_011538776.1:c.6082_6095del	XP_011537078.1:p.Asn2028Ter
XR_944740.1:n.8402_8415del
XM_005269162.4:c.6073_6086del	XP_005269219.1:p.Asn2025Ter
XM_006719614.4:c.6082_6095del	XP_006719677.1:p.Asn2028Ter
XM_006719616.3:c.6070_6083del	XP_006719679.1:p.Asn2024Ter
XM_011538770.2:c.6082_6095del	XP_011537072.1:p.Asn2028Ter
XM_011538771.2:c.6079_6092del	XP_011537073.1:p.Asn2027Ter
XM_011538772.2:c.6073_6086del	XP_011537074.1:p.Asn2025Ter
XM_011538773.2:c.6070_6083del	XP_011537075.1:p.Asn2024Ter
XM_011538774.2:c.6061_6074del	XP_011537076.1:p.Asn2021Ter
XM_011538776.2:c.6082_6095del	XP_011537078.1:p.Asn2028Ter
XR_001748874.1:n.7391_7404del
NM_003482.4:c.6073_6086del MANE Select	NP_003473.3:p.Asn2025Ter