Canonical Allele Identifier: CA340100
Gene: EHMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3606
ClinVar RCV Id: RCV000003790
dbSNP Id: rs137852715

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137757923_137757935del , CM000671.2:g.137757923_137757935del GRCh38
NC_000009.11:g.140652375_140652387del , CM000671.1:g.140652375_140652387del GRCh37
NC_000009.10:g.139772196_139772208del NCBI36
NG_011776.1:g.143932_143944del

Transcript Alleles

HGVS Amino-acid change
ENST00000460843.6:c.1413_1425del MANE Select ENSP00000417980.1:p.Pro473GlnfsTer?
ENST00000629335.2:c.1413_1425del ENSP00000490056.1:p.Pro473GlnfsTer?
ENST00000636027.1:c.1299_1311del ENSP00000489961.1:p.Pro435GlnfsTer?
ENST00000637161.1:c.1320_1332del ENSP00000490328.1:p.Pro442GlnfsTer?
ENST00000637261.1:c.1453_1465del ENSP00000490815.1:n.1453_1465del
ENST00000637977.1:c.1358_1370del
ENST00000638071.1:c.1040_1052del
ENST00000640639.1:c.582_594del ENSP00000491823.1:p.Pro196GlnfsTer?
ENST00000371394.6:c.*1148_*1160del ENSP00000485945.1:n.*1148_*1160del
ENST00000460843.5:c.1413_1425del ENSP00000417980.1:p.Pro473GlnfsTer?
ENST00000462484.5:c.1413_1425del ENSP00000417328.1:p.Pro473GlnfsTer?
ENST00000462942.3:c.270_282del ENSP00000436107.1:p.Pro92GlnfsTer?
ENST00000465566.2:c.105_117del ENSP00000486261.1:p.Pro37GlnfsTer?
ENST00000629808.2:c.506_518del
NM_001145527.1:c.1413_1425del NP_001138999.1:p.Pro473GlnfsTer?
NM_024757.4:c.1413_1425del NP_079033.4:p.Pro473GlnfsTer?
XM_005266105.3:c.1404_1416del XP_005266162.1:p.Pro470GlnfsTer?
XM_005266110.1:c.1320_1332del XP_005266167.1:p.Pro442GlnfsTer?
XM_006717288.2:c.1395_1407del XP_006717351.1:p.Pro467GlnfsTer?
XM_011519021.1:c.1422_1434del XP_011517323.1:p.Pro476GlnfsTer?
XM_011519022.1:c.1419_1431del XP_011517324.1:p.Pro475GlnfsTer?
XM_011519023.1:c.1401_1413del XP_011517325.1:p.Pro469GlnfsTer?
XM_011519024.1:c.1344_1356del XP_011517326.1:p.Pro450GlnfsTer?
XM_011519025.1:c.1320_1332del XP_011517327.1:p.Pro442GlnfsTer?
XM_011519026.1:c.1422_1434del XP_011517328.1:p.Pro476GlnfsTer?
XM_011519027.1:c.1422_1434del XP_011517329.1:p.Pro476GlnfsTer?
XM_011519028.1:c.1422_1434del XP_011517330.1:p.Pro476GlnfsTer?
XM_011519033.1:c.1401_1413del XP_011517335.1:p.Pro469GlnfsTer?
NM_001354259.1:c.1320_1332del NP_001341188.1:p.Pro442GlnfsTer?
NM_001354263.1:c.1392_1404del NP_001341192.1:p.Pro466GlnfsTer?
NM_001354611.1:c.1413_1425del NP_001341540.1:p.Pro473GlnfsTer?
NM_001354612.1:c.1320_1332del NP_001341541.1:p.Pro442GlnfsTer?
XM_005266105.5:c.1404_1416del XP_005266162.1:p.Pro470GlnfsTer?
XM_011519021.3:c.1422_1434del XP_011517323.1:p.Pro476GlnfsTer?
XM_011519022.3:c.1419_1431del XP_011517324.1:p.Pro475GlnfsTer?
XM_011519023.3:c.1401_1413del XP_011517325.1:p.Pro469GlnfsTer?
XM_017015134.1:c.1398_1410del XP_016870623.1:p.Pro468GlnfsTer?
XM_017015136.2:c.1314_1326del XP_016870625.1:p.Pro440GlnfsTer?
XM_017015137.1:c.1299_1311del XP_016870626.1:p.Pro435GlnfsTer?
XM_017015138.1:c.1299_1311del XP_016870627.1:p.Pro435GlnfsTer?
XM_024447674.1:c.1242_1254del XP_024303442.1:p.Pro416GlnfsTer?
XM_024447675.1:c.1320_1332del XP_024303443.1:p.Pro442GlnfsTer?
XM_024447676.1:c.537_549del XP_024303444.1:p.Pro181GlnfsTer?
XM_024447677.1:c.537_549del XP_024303445.1:p.Pro181GlnfsTer?
XM_024447678.1:c.1320_1332del XP_024303446.1:p.Pro442GlnfsTer?
XM_024447679.1:c.1320_1332del XP_024303447.1:p.Pro442GlnfsTer?
XM_024447680.1:c.1299_1311del XP_024303448.1:p.Pro435GlnfsTer?
NM_024757.5:c.1413_1425del MANE Select NP_079033.4:p.Pro473GlnfsTer?
NM_001145527.2:c.1413_1425del NP_001138999.1:p.Pro473GlnfsTer?
NM_001354259.2:c.1320_1332del NP_001341188.1:p.Pro442GlnfsTer?
NM_001354263.2:c.1392_1404del NP_001341192.1:p.Pro466GlnfsTer?
NM_001354611.2:c.1413_1425del NP_001341540.1:p.Pro473GlnfsTer?
NM_001354612.2:c.1320_1332del NP_001341541.1:p.Pro442GlnfsTer?