Canonical Allele Identifier: CA16618422
Gene: KMT2C HGNC NCBI

Linked Data

dbSNP Id: rs1064793759

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152183137_152183138del , CM000669.2:g.152183137_152183138del GRCh38
NC_000007.13:g.151880222_151880223del , CM000669.1:g.151880222_151880223del GRCh37
NC_000007.12:g.151511155_151511156del NCBI36
NG_033948.1:g.257870_257871del

Transcript Alleles

HGVS Amino-acid change
ENST00000682176.1:c.1822_1823del
ENST00000682283.1:c.5103_5104del ENSP00000507485.1:p.Arg1701SerfsTer6
ENST00000683159.1:c.576-542_576-541del
ENST00000683200.1:c.2451_2452del ENSP00000508052.1:p.Arg817SerfsTer6
ENST00000262189.11:c.5103_5104del MANE Select ENSP00000262189.6:p.Arg1701SerfsTer6
ENST00000360104.8:c.725_726del
ENST00000679645.1:c.*1196_*1197del ENSP00000505745.1:n.*1196_*1197del
ENST00000679882.1:c.4878_4879del ENSP00000506154.1:p.Arg1626SerfsTer6
ENST00000680969.1:c.2499_2500del ENSP00000505951.1:p.Arg833SerfsTer6
ENST00000681033.1:c.3801_3802del ENSP00000505058.1:p.Arg1267SerfsTer6
ENST00000681755.1:n.28_29del
ENST00000262189.10:c.5103_5104del ENSP00000262189.6:p.Arg1701SerfsTer6
ENST00000355193.6:c.5103_5104del ENSP00000347325.3:p.Arg1701SerfsTer6
ENST00000473186.5:n.2814_2815del
ENST00000558084.5:c.*2623_*2624del ENSP00000453752.1:n.*2623_*2624del
NM_170606.2:c.5103_5104del NP_733751.2:p.Arg1701SerfsTer6
XM_005250025.3:c.5154_5155del XP_005250082.1:p.Arg1718SerfsTer6
XM_005250026.2:c.5151_5152del XP_005250083.1:p.Arg1717SerfsTer6
XM_005250027.3:c.5154_5155del XP_005250084.1:p.Arg1718SerfsTer6
XM_005250028.3:c.5154_5155del XP_005250085.1:p.Arg1718SerfsTer6
XM_005250031.3:c.5154_5155del XP_005250088.1:p.Arg1718SerfsTer6
XM_006716077.2:c.5154_5155del XP_006716140.1:p.Arg1718SerfsTer6
XM_006716078.2:c.5154_5155del XP_006716141.1:p.Arg1718SerfsTer6
XM_006716079.2:c.5154_5155del XP_006716142.1:p.Arg1718SerfsTer6
XM_011516450.1:c.5106_5107del XP_011514752.1:p.Arg1702SerfsTer6
XM_011516451.1:c.5034_5035del XP_011514753.1:p.Arg1678SerfsTer6
XM_011516452.1:c.5001_5002del XP_011514754.1:p.Arg1667SerfsTer6
XM_011516453.1:c.5154_5155del XP_011514755.1:p.Arg1718SerfsTer6
XM_011516454.1:c.4239_4240del XP_011514756.1:p.Arg1413SerfsTer6
XM_011516455.1:c.2700_2701del XP_011514757.1:p.Arg900SerfsTer6
XM_011516456.1:c.5106_5107del XP_011514758.1:p.Arg1702SerfsTer6
XR_428183.2:n.5362_5363del
XM_005250025.4:c.5154_5155del XP_005250082.1:p.Arg1718SerfsTer6
XM_005250026.3:c.5151_5152del XP_005250083.1:p.Arg1717SerfsTer6
XM_005250027.4:c.5154_5155del XP_005250084.1:p.Arg1718SerfsTer6
XM_005250028.4:c.5154_5155del XP_005250085.1:p.Arg1718SerfsTer6
XM_005250031.4:c.5154_5155del XP_005250088.1:p.Arg1718SerfsTer6
XM_006716077.3:c.5154_5155del XP_006716140.1:p.Arg1718SerfsTer6
XM_006716078.3:c.5154_5155del XP_006716141.1:p.Arg1718SerfsTer6
XM_006716079.3:c.5154_5155del XP_006716142.1:p.Arg1718SerfsTer6
XM_011516450.2:c.5106_5107del XP_011514752.1:p.Arg1702SerfsTer6
XM_011516451.2:c.5034_5035del XP_011514753.1:p.Arg1678SerfsTer6
XM_011516452.2:c.5001_5002del XP_011514754.1:p.Arg1667SerfsTer6
XM_011516453.2:c.5154_5155del XP_011514755.1:p.Arg1718SerfsTer6
XM_011516454.2:c.4239_4240del XP_011514756.1:p.Arg1413SerfsTer6
XM_011516456.2:c.5106_5107del XP_011514758.1:p.Arg1702SerfsTer6
XM_017012480.1:c.5154_5155del XP_016867969.1:p.Arg1718SerfsTer6
XM_017012481.1:c.5151_5152del XP_016867970.1:p.Arg1717SerfsTer6
XM_017012482.1:c.5154_5155del XP_016867971.1:p.Arg1718SerfsTer6
XM_017012483.1:c.5154_5155del XP_016867972.1:p.Arg1718SerfsTer6
XM_017012484.1:c.5121_5122del XP_016867973.1:p.Arg1707SerfsTer6
XM_017012485.1:c.5103_5104del XP_016867974.1:p.Arg1701SerfsTer6
XM_017012486.1:c.5154_5155del XP_016867975.1:p.Arg1718SerfsTer6
XM_017012487.1:c.5007_5008del XP_016867976.1:p.Arg1669SerfsTer6
XM_017012488.1:c.5134-542_5134-541del XP_016867977.1:n.5134-542_5134-541del
XM_017012489.1:c.1824_1825del XP_016867978.1:p.Arg608SerfsTer6
XM_017012490.2:c.1428_1429del XP_016867979.1:p.Arg476SerfsTer6
XM_024446852.1:c.5151_5152del XP_024302620.1:p.Arg1717SerfsTer6
XM_024446853.1:c.5154_5155del XP_024302621.1:p.Arg1718SerfsTer6
XR_428183.3:n.5386_5387del
NM_170606.3:c.5103_5104del MANE Select NP_733751.2:p.Arg1701SerfsTer6