Canonical Allele Identifier: CA1108783438
Gene: KMT2C HGNC NCBI

Linked Data

dbSNP Id: rs2093493561
gnomAD v3: 7-152183275-ATACT-A
gnomAD v4: 7-152183275-ATACT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152183279_152183282del , CM000669.2:g.152183279_152183282del GRCh38
NC_000007.13:g.151880364_151880367del , CM000669.1:g.151880364_151880367del GRCh37
NC_000007.12:g.151511297_151511300del NCBI36
NG_033948.1:g.257727_257730del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682176.1:c.1802-123_1802-120del
ENST00000682283.1:c.5083-123_5083-120del ENSP00000507485.1:n.5083-123_5083-120del
ENST00000683159.1:c.576-685_576-682del
ENST00000683200.1:c.2431-123_2431-120del ENSP00000508052.1:n.2431-123_2431-120del
ENST00000262189.11:c.5083-123_5083-120del MANE Select ENSP00000262189.6:n.5083-123_5083-120del
ENST00000360104.8:c.705-123_705-120del
ENST00000679645.1:c.*1176-123_*1176-120del ENSP00000505745.1:n.*1176-123_*1176-120del
ENST00000679882.1:c.4858-123_4858-120del ENSP00000506154.1:n.4858-123_4858-120del
ENST00000680969.1:c.2479-123_2479-120del ENSP00000505951.1:n.2479-123_2479-120del
ENST00000681033.1:c.3781-123_3781-120del ENSP00000505058.1:n.3781-123_3781-120del
ENST00000262189.10:c.5083-123_5083-120del ENSP00000262189.6:n.5083-123_5083-120del
ENST00000355193.6:c.5083-123_5083-120del ENSP00000347325.3:n.5083-123_5083-120del
ENST00000473186.5:n.2794-123_2794-120del
ENST00000558084.5:c.*2603-123_*2603-120del ENSP00000453752.1:n.*2603-123_*2603-120del
NM_170606.2:c.5083-123_5083-120del NP_733751.2:n.5083-123_5083-120del
XM_005250025.3:c.5134-123_5134-120del XP_005250082.1:n.5134-123_5134-120del
XM_005250026.2:c.5131-123_5131-120del XP_005250083.1:n.5131-123_5131-120del
XM_005250027.3:c.5134-123_5134-120del XP_005250084.1:n.5134-123_5134-120del
XM_005250028.3:c.5134-123_5134-120del XP_005250085.1:n.5134-123_5134-120del
XM_005250031.3:c.5134-123_5134-120del XP_005250088.1:n.5134-123_5134-120del
XM_006716077.2:c.5134-123_5134-120del XP_006716140.1:n.5134-123_5134-120del
XM_006716078.2:c.5134-123_5134-120del XP_006716141.1:n.5134-123_5134-120del
XM_006716079.2:c.5134-123_5134-120del XP_006716142.1:n.5134-123_5134-120del
XM_011516450.1:c.5086-123_5086-120del XP_011514752.1:n.5086-123_5086-120del
XM_011516451.1:c.5014-123_5014-120del XP_011514753.1:n.5014-123_5014-120del
XM_011516452.1:c.4981-123_4981-120del XP_011514754.1:n.4981-123_4981-120del
XM_011516453.1:c.5134-123_5134-120del XP_011514755.1:n.5134-123_5134-120del
XM_011516454.1:c.4219-123_4219-120del XP_011514756.1:n.4219-123_4219-120del
XM_011516455.1:c.2680-123_2680-120del XP_011514757.1:n.2680-123_2680-120del
XM_011516456.1:c.5086-123_5086-120del XP_011514758.1:n.5086-123_5086-120del
XR_428183.2:n.5342-123_5342-120del
XM_005250025.4:c.5134-123_5134-120del XP_005250082.1:n.5134-123_5134-120del
XM_005250026.3:c.5131-123_5131-120del XP_005250083.1:n.5131-123_5131-120del
XM_005250027.4:c.5134-123_5134-120del XP_005250084.1:n.5134-123_5134-120del
XM_005250028.4:c.5134-123_5134-120del XP_005250085.1:n.5134-123_5134-120del
XM_005250031.4:c.5134-123_5134-120del XP_005250088.1:n.5134-123_5134-120del
XM_006716077.3:c.5134-123_5134-120del XP_006716140.1:n.5134-123_5134-120del
XM_006716078.3:c.5134-123_5134-120del XP_006716141.1:n.5134-123_5134-120del
XM_006716079.3:c.5134-123_5134-120del XP_006716142.1:n.5134-123_5134-120del
XM_011516450.2:c.5086-123_5086-120del XP_011514752.1:n.5086-123_5086-120del
XM_011516451.2:c.5014-123_5014-120del XP_011514753.1:n.5014-123_5014-120del
XM_011516452.2:c.4981-123_4981-120del XP_011514754.1:n.4981-123_4981-120del
XM_011516453.2:c.5134-123_5134-120del XP_011514755.1:n.5134-123_5134-120del
XM_011516454.2:c.4219-123_4219-120del XP_011514756.1:n.4219-123_4219-120del
XM_011516456.2:c.5086-123_5086-120del XP_011514758.1:n.5086-123_5086-120del
XM_017012480.1:c.5134-123_5134-120del XP_016867969.1:n.5134-123_5134-120del
XM_017012481.1:c.5131-123_5131-120del XP_016867970.1:n.5131-123_5131-120del
XM_017012482.1:c.5134-123_5134-120del XP_016867971.1:n.5134-123_5134-120del
XM_017012483.1:c.5134-123_5134-120del XP_016867972.1:n.5134-123_5134-120del
XM_017012484.1:c.5101-123_5101-120del XP_016867973.1:n.5101-123_5101-120del
XM_017012485.1:c.5083-123_5083-120del XP_016867974.1:n.5083-123_5083-120del
XM_017012486.1:c.5134-123_5134-120del XP_016867975.1:n.5134-123_5134-120del
XM_017012487.1:c.4987-123_4987-120del XP_016867976.1:n.4987-123_4987-120del
XM_017012488.1:c.5134-685_5134-682del XP_016867977.1:n.5134-685_5134-682del
XM_017012489.1:c.1804-123_1804-120del XP_016867978.1:n.1804-123_1804-120del
XM_017012490.2:c.1408-123_1408-120del XP_016867979.1:n.1408-123_1408-120del
XM_024446852.1:c.5131-123_5131-120del XP_024302620.1:n.5131-123_5131-120del
XM_024446853.1:c.5134-123_5134-120del XP_024302621.1:n.5134-123_5134-120del
XR_428183.3:n.5366-123_5366-120del
NM_170606.3:c.5083-123_5083-120del MANE Select NP_733751.2:n.5083-123_5083-120del
Search 100 bp 5'
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