Canonical Allele Identifier: CA201843129
Gene: EHMT1 HGNC NCBI

Linked Data

dbSNP Id: rs137852723

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813016_137813019del , CM000671.2:g.137813016_137813019del GRCh38
NC_000009.11:g.140707468_140707471del , CM000671.1:g.140707468_140707471del GRCh37
NC_000009.10:g.139827289_139827292del NCBI36
NG_011776.1:g.199025_199028del

Transcript Alleles

HGVS Amino-acid change
ENST00000460843.6:c.2878_2881del MANE Select ENSP00000417980.1:p.Ser960GlyfsTer7
ENST00000636027.1:c.2764_2767del ENSP00000489961.1:p.Ser922GlyfsTer7
ENST00000637161.1:c.2785_2788del ENSP00000490328.1:p.Ser929GlyfsTer7
ENST00000637261.1:c.2918_2921del ENSP00000490815.1:n.2918_2921del
ENST00000637891.1:c.772_775del ENSP00000490907.1:p.Ser258GlyfsTer7
ENST00000460843.5:c.2878_2881del ENSP00000417980.1:p.Ser960GlyfsTer7
ENST00000462942.3:c.1735_1738del ENSP00000436107.1:p.Ser579GlyfsTer7
ENST00000486164.5:c.565_568del
ENST00000488242.2:n.404_407del
NM_024757.4:c.2878_2881del NP_079033.4:p.Ser960GlyfsTer7
XM_005266105.3:c.2869_2872del XP_005266162.1:p.Ser957GlyfsTer7
XM_005266110.1:c.2785_2788del XP_005266167.1:p.Ser929GlyfsTer7
XM_006717288.2:c.2860_2863del XP_006717351.1:p.Ser954GlyfsTer7
XM_011519021.1:c.2887_2890del XP_011517323.1:p.Ser963GlyfsTer7
XM_011519022.1:c.2884_2887del XP_011517324.1:p.Ser962GlyfsTer7
XM_011519023.1:c.2866_2869del XP_011517325.1:p.Ser956GlyfsTer7
XM_011519024.1:c.2809_2812del XP_011517326.1:p.Ser937GlyfsTer7
XM_011519025.1:c.2785_2788del XP_011517327.1:p.Ser929GlyfsTer7
XM_011519026.1:c.2743_2746del XP_011517328.1:p.Ser915GlyfsTer7
XM_011519029.1:c.1309_1312del XP_011517331.1:p.Ser437GlyfsTer7
XM_011519030.1:c.661_664del XP_011517332.1:p.Ser221GlyfsTer7
XM_011519031.1:c.448_451del XP_011517333.1:p.Ser150GlyfsTer7
XM_011519032.1:c.448_451del XP_011517334.1:p.Ser150GlyfsTer7
XM_011519033.1:c.2722_2725del XP_011517335.1:p.Ser908GlyfsTer7
NM_001354263.1:c.2857_2860del NP_001341192.1:p.Ser953GlyfsTer7
XM_005266105.5:c.2869_2872del XP_005266162.1:p.Ser957GlyfsTer7
XM_011519021.3:c.2887_2890del XP_011517323.1:p.Ser963GlyfsTer7
XM_011519022.3:c.2884_2887del XP_011517324.1:p.Ser962GlyfsTer7
XM_011519023.3:c.2866_2869del XP_011517325.1:p.Ser956GlyfsTer7
XM_011519029.3:c.1309_1312del XP_011517331.1:p.Ser437GlyfsTer7
XM_011519030.3:c.661_664del XP_011517332.1:p.Ser221GlyfsTer7
XM_017015134.1:c.2863_2866del XP_016870623.1:p.Ser955GlyfsTer7
XM_017015136.2:c.2779_2782del XP_016870625.1:p.Ser927GlyfsTer7
XM_017015137.1:c.2764_2767del XP_016870626.1:p.Ser922GlyfsTer7
XM_017015138.1:c.2764_2767del XP_016870627.1:p.Ser922GlyfsTer7
XM_024447674.1:c.2707_2710del XP_024303442.1:p.Ser903GlyfsTer7
XM_024447675.1:c.2641_2644del XP_024303443.1:p.Ser881GlyfsTer7
XM_024447676.1:c.2002_2005del XP_024303444.1:p.Ser668GlyfsTer7
XM_024447677.1:c.2002_2005del XP_024303445.1:p.Ser668GlyfsTer7
XM_024447680.1:c.2620_2623del XP_024303448.1:p.Ser874GlyfsTer7
NM_024757.5:c.2878_2881del MANE Select NP_079033.4:p.Ser960GlyfsTer7
NM_001354263.2:c.2857_2860del NP_001341192.1:p.Ser953GlyfsTer7