Canonical Allele Identifier: CA645565080
Gene: KMT2C HGNC NCBI

Linked Data

dbSNP Id: rs2129095585

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148879del , CM000669.2:g.152148879del GRCh38
NC_000007.13:g.151845964del , CM000669.1:g.151845964del GRCh37
NC_000007.12:g.151476897del NCBI36
NG_033948.1:g.292132del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1241del
ENST00000682116.1:n.2185del
ENST00000682283.1:c.13224del ENSP00000507485.1:p.Lys4408AsnfsTer5
ENST00000682629.1:n.2353del
ENST00000683120.1:n.8245del
ENST00000683178.1:c.3626del
ENST00000683200.1:c.10563del ENSP00000508052.1:p.Lys3521AsnfsTer5
ENST00000683337.1:n.4683del
ENST00000683502.1:c.3698del
ENST00000683621.1:n.1819del
ENST00000683640.1:n.1769del
ENST00000684069.1:c.1470del ENSP00000507650.1:p.Lys490AsnfsTer5
ENST00000684261.1:c.7950del ENSP00000508097.1:p.Lys2650AsnfsTer5
ENST00000684649.1:c.3698del
ENST00000262189.11:c.13053del MANE Select ENSP00000262189.6:p.Lys4351AsnfsTer5
ENST00000360104.8:c.8840del
ENST00000418061.2:c.3695del
ENST00000424877.6:c.3629del
ENST00000679393.1:n.7764del
ENST00000679560.1:c.7953del ENSP00000505094.1:p.Lys2651AsnfsTer5
ENST00000679882.1:c.12618del ENSP00000506154.1:p.Lys4206AsnfsTer5
ENST00000680029.1:c.3630del
ENST00000680877.1:c.7953del ENSP00000505724.1:p.Lys2651AsnfsTer5
ENST00000681923.1:n.2068del
ENST00000262189.10:c.13053del ENSP00000262189.6:p.Lys4351AsnfsTer5
ENST00000355193.6:c.13053del ENSP00000347325.3:p.Lys4351AsnfsTer5
ENST00000360104.7:c.5734del
ENST00000424877.5:c.2904del ENSP00000410411.1:p.Lys968AsnfsTer5
ENST00000473186.5:n.10935del
ENST00000558084.5:c.*10573del ENSP00000453752.1:n.*10573del
NM_170606.2:c.13053del NP_733751.2:p.Lys4351AsnfsTer5
XM_005250025.3:c.13269del XP_005250082.1:p.Lys4423AsnfsTer5
XM_005250026.2:c.13266del XP_005250083.1:p.Lys4422AsnfsTer5
XM_005250027.3:c.13266del XP_005250084.1:p.Lys4422AsnfsTer5
XM_005250028.3:c.13269del XP_005250085.1:p.Lys4423AsnfsTer5
XM_005250031.3:c.13104del XP_005250088.1:p.Lys4368AsnfsTer5
XM_006716077.2:c.13266del XP_006716140.1:p.Lys4422AsnfsTer5
XM_006716078.2:c.13197del XP_006716141.1:p.Lys4399AsnfsTer5
XM_006716079.2:c.13101del XP_006716142.1:p.Lys4367AsnfsTer5
XM_011516450.1:c.13221del XP_011514752.1:p.Lys4407AsnfsTer5
XM_011516451.1:c.13149del XP_011514753.1:p.Lys4383AsnfsTer5
XM_011516452.1:c.13116del XP_011514754.1:p.Lys4372AsnfsTer5
XM_011516453.1:c.13032del XP_011514755.1:p.Lys4344AsnfsTer5
XM_011516454.1:c.12354del XP_011514756.1:p.Lys4118AsnfsTer5
XM_011516455.1:c.10815del XP_011514757.1:p.Lys3605AsnfsTer5
XM_011516456.1:c.13221del XP_011514758.1:p.Lys4407AsnfsTer5
XM_005250025.4:c.13269del XP_005250082.1:p.Lys4423AsnfsTer5
XM_005250026.3:c.13266del XP_005250083.1:p.Lys4422AsnfsTer5
XM_005250027.4:c.13266del XP_005250084.1:p.Lys4422AsnfsTer5
XM_005250028.4:c.13269del XP_005250085.1:p.Lys4423AsnfsTer5
XM_005250031.4:c.13104del XP_005250088.1:p.Lys4368AsnfsTer5
XM_006716077.3:c.13266del XP_006716140.1:p.Lys4422AsnfsTer5
XM_006716078.3:c.13197del XP_006716141.1:p.Lys4399AsnfsTer5
XM_006716079.3:c.13101del XP_006716142.1:p.Lys4367AsnfsTer5
XM_011516450.2:c.13221del XP_011514752.1:p.Lys4407AsnfsTer5
XM_011516451.2:c.13149del XP_011514753.1:p.Lys4383AsnfsTer5
XM_011516452.2:c.13116del XP_011514754.1:p.Lys4372AsnfsTer5
XM_011516453.2:c.13032del XP_011514755.1:p.Lys4344AsnfsTer5
XM_011516454.2:c.12354del XP_011514756.1:p.Lys4118AsnfsTer5
XM_011516456.2:c.13221del XP_011514758.1:p.Lys4407AsnfsTer5
XM_017012480.1:c.13269del XP_016867969.1:p.Lys4423AsnfsTer5
XM_017012481.1:c.13266del XP_016867970.1:p.Lys4422AsnfsTer5
XM_017012482.1:c.13266del XP_016867971.1:p.Lys4422AsnfsTer5
XM_017012483.1:c.13266del XP_016867972.1:p.Lys4422AsnfsTer5
XM_017012484.1:c.13236del XP_016867973.1:p.Lys4412AsnfsTer5
XM_017012485.1:c.13218del XP_016867974.1:p.Lys4406AsnfsTer5
XM_017012486.1:c.13194del XP_016867975.1:p.Lys4398AsnfsTer5
XM_017012487.1:c.13122del XP_016867976.1:p.Lys4374AsnfsTer5
XM_017012488.1:c.13086del XP_016867977.1:p.Lys4362AsnfsTer5
XM_017012489.1:c.9939del XP_016867978.1:p.Lys3313AsnfsTer5
XM_017012490.2:c.9543del XP_016867979.1:p.Lys3181AsnfsTer5
XM_024446852.1:c.13266del XP_024302620.1:p.Lys4422AsnfsTer5
XM_024446853.1:c.13194del XP_024302621.1:p.Lys4398AsnfsTer5
NM_170606.3:c.13053del MANE Select NP_733751.2:p.Lys4351AsnfsTer5