Canonical Allele Identifier: CA16618816
Gene: EHMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1064796085

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137743981_137743982del , CM000671.2:g.137743981_137743982del GRCh38
NC_000009.11:g.140638433_140638434del , CM000671.1:g.140638433_140638434del GRCh37
NC_000009.10:g.139758254_139758255del NCBI36
NG_011776.1:g.129990_129991del

Transcript Alleles

HGVS Amino-acid change
ENST00000460843.6:c.1061_1062del MANE Select ENSP00000417980.1:p.Glu354GlyfsTer?
ENST00000629335.2:c.1061_1062del ENSP00000490056.1:p.Glu354GlyfsTer?
ENST00000636027.1:c.947_948del ENSP00000489961.1:p.Glu316GlyfsTer?
ENST00000637161.1:c.968_969del ENSP00000490328.1:p.Glu323GlyfsTer?
ENST00000637261.1:c.1101_1102del ENSP00000490815.1:n.1101_1102del
ENST00000637318.1:c.185_186del ENSP00000490611.1:p.Glu62GlyfsTer?
ENST00000637977.1:c.1006_1007del
ENST00000638071.1:c.766_767del
ENST00000640639.1:c.230_231del ENSP00000491823.1:p.Glu77GlyfsTer?
ENST00000371394.6:c.*796_*797del ENSP00000485945.1:n.*796_*797del
ENST00000460843.5:c.1061_1062del ENSP00000417980.1:p.Glu354GlyfsTer?
ENST00000462484.5:c.1061_1062del ENSP00000417328.1:p.Glu354GlyfsTer?
ENST00000478940.1:n.352_353del
ENST00000495657.5:n.411_412del
ENST00000626066.2:c.964_965del
ENST00000629808.2:c.232_233del
NM_001145527.1:c.1061_1062del NP_001138999.1:p.Glu354GlyfsTer?
NM_024757.4:c.1061_1062del NP_079033.4:p.Glu354GlyfsTer?
XM_005266105.3:c.1052_1053del XP_005266162.1:p.Glu351GlyfsTer?
XM_005266110.1:c.968_969del XP_005266167.1:p.Glu323GlyfsTer?
XM_006717288.2:c.1043_1044del XP_006717351.1:p.Glu348GlyfsTer?
XM_011519021.1:c.1070_1071del XP_011517323.1:p.Glu357GlyfsTer?
XM_011519022.1:c.1067_1068del XP_011517324.1:p.Glu356GlyfsTer?
XM_011519023.1:c.1049_1050del XP_011517325.1:p.Glu350GlyfsTer?
XM_011519024.1:c.1070_1071del XP_011517326.1:p.Glu357GlyfsTer?
XM_011519025.1:c.968_969del XP_011517327.1:p.Glu323GlyfsTer?
XM_011519026.1:c.1070_1071del XP_011517328.1:p.Glu357GlyfsTer?
XM_011519027.1:c.1070_1071del XP_011517329.1:p.Glu357GlyfsTer?
XM_011519028.1:c.1070_1071del XP_011517330.1:p.Glu357GlyfsTer?
XM_011519033.1:c.1049_1050del XP_011517335.1:p.Glu350GlyfsTer?
NM_001354259.1:c.968_969del NP_001341188.1:p.Glu323GlyfsTer?
NM_001354263.1:c.1040_1041del NP_001341192.1:p.Glu347GlyfsTer?
NM_001354611.1:c.1061_1062del NP_001341540.1:p.Glu354GlyfsTer?
NM_001354612.1:c.968_969del NP_001341541.1:p.Glu323GlyfsTer?
XM_005266105.5:c.1052_1053del XP_005266162.1:p.Glu351GlyfsTer?
XM_011519021.3:c.1070_1071del XP_011517323.1:p.Glu357GlyfsTer?
XM_011519022.3:c.1067_1068del XP_011517324.1:p.Glu356GlyfsTer?
XM_011519023.3:c.1049_1050del XP_011517325.1:p.Glu350GlyfsTer?
XM_017015134.1:c.1046_1047del XP_016870623.1:p.Glu349GlyfsTer?
XM_017015136.2:c.1040_1041del XP_016870625.1:p.Glu347GlyfsTer?
XM_017015137.1:c.947_948del XP_016870626.1:p.Glu316GlyfsTer?
XM_017015138.1:c.947_948del XP_016870627.1:p.Glu316GlyfsTer?
XM_024447674.1:c.968_969del XP_024303442.1:p.Glu323GlyfsTer?
XM_024447675.1:c.968_969del XP_024303443.1:p.Glu323GlyfsTer?
XM_024447676.1:c.185_186del XP_024303444.1:p.Glu62GlyfsTer?
XM_024447677.1:c.185_186del XP_024303445.1:p.Glu62GlyfsTer?
XM_024447678.1:c.968_969del XP_024303446.1:p.Glu323GlyfsTer?
XM_024447679.1:c.968_969del XP_024303447.1:p.Glu323GlyfsTer?
XM_024447680.1:c.947_948del XP_024303448.1:p.Glu316GlyfsTer?
NM_024757.5:c.1061_1062del MANE Select NP_079033.4:p.Glu354GlyfsTer?
NM_001145527.2:c.1061_1062del NP_001138999.1:p.Glu354GlyfsTer?
NM_001354259.2:c.968_969del NP_001341188.1:p.Glu323GlyfsTer?
NM_001354263.2:c.1040_1041del NP_001341192.1:p.Glu347GlyfsTer?
NM_001354611.2:c.1061_1062del NP_001341540.1:p.Glu354GlyfsTer?
NM_001354612.2:c.968_969del NP_001341541.1:p.Glu323GlyfsTer?