Canonical Allele Identifier: CA2842411110
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813455del , CM000671.2:g.137813455del GRCh38
NC_000009.11:g.140707907del , CM000671.1:g.140707907del GRCh37
NC_000009.10:g.139827728del NCBI36
NG_011776.1:g.199464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.3105del MANE Select ENSP00000417980.1:p.Ser1036AlafsTer11
ENST00000637161.1:c.3012del ENSP00000490328.1:p.Ser1005AlafsTer11
ENST00000637261.1:c.3145del ENSP00000490815.1:n.3145del
ENST00000637891.1:c.999del ENSP00000490907.1:p.Ser334AlafsTer11
ENST00000460843.5:c.3105del ENSP00000417980.1:p.Ser1036AlafsTer11
ENST00000462942.3:c.1962del ENSP00000436107.1:p.Ser655AlafsTer11
ENST00000488242.2:n.631del
NM_024757.4:c.3105del NP_079033.4:p.Ser1036AlafsTer11
XM_005266105.3:c.3096del XP_005266162.1:p.Ser1033AlafsTer11
XM_005266110.1:c.3012del XP_005266167.1:p.Ser1005AlafsTer11
XM_006717288.2:c.3087del XP_006717351.1:p.Ser1030AlafsTer11
XM_011519021.1:c.3114del XP_011517323.1:p.Ser1039AlafsTer11
XM_011519022.1:c.3111del XP_011517324.1:p.Ser1038AlafsTer11
XM_011519023.1:c.3093del XP_011517325.1:p.Ser1032AlafsTer11
XM_011519024.1:c.3036del XP_011517326.1:p.Ser1013AlafsTer11
XM_011519025.1:c.3012del XP_011517327.1:p.Ser1005AlafsTer11
XM_011519026.1:c.2970del XP_011517328.1:p.Ser991AlafsTer11
XM_011519029.1:c.1536del XP_011517331.1:p.Ser513AlafsTer11
XM_011519030.1:c.888del XP_011517332.1:p.Ser297AlafsTer11
XM_011519031.1:c.675del XP_011517333.1:p.Ser226AlafsTer11
XM_011519032.1:c.675del XP_011517334.1:p.Ser226AlafsTer11
XM_011519033.1:c.2949del XP_011517335.1:p.Ser984AlafsTer11
NM_001354263.1:c.3084del NP_001341192.1:p.Ser1029AlafsTer11
XM_005266105.5:c.3096del XP_005266162.1:p.Ser1033AlafsTer11
XM_011519021.3:c.3114del XP_011517323.1:p.Ser1039AlafsTer11
XM_011519022.3:c.3111del XP_011517324.1:p.Ser1038AlafsTer11
XM_011519023.3:c.3093del XP_011517325.1:p.Ser1032AlafsTer11
XM_011519029.3:c.1536del XP_011517331.1:p.Ser513AlafsTer11
XM_011519030.3:c.888del XP_011517332.1:p.Ser297AlafsTer11
XM_017015134.1:c.3090del XP_016870623.1:p.Ser1031AlafsTer11
XM_017015136.2:c.3006del XP_016870625.1:p.Ser1003AlafsTer11
XM_017015137.1:c.2991del XP_016870626.1:p.Ser998AlafsTer11
XM_017015138.1:c.2991del XP_016870627.1:p.Ser998AlafsTer11
XM_024447674.1:c.2934del XP_024303442.1:p.Ser979AlafsTer11
XM_024447675.1:c.2868del XP_024303443.1:p.Ser957AlafsTer11
XM_024447676.1:c.2229del XP_024303444.1:p.Ser744AlafsTer11
XM_024447677.1:c.2229del XP_024303445.1:p.Ser744AlafsTer11
XM_024447680.1:c.2847del XP_024303448.1:p.Ser950AlafsTer11
NM_024757.5:c.3105del MANE Select NP_079033.4:p.Ser1036AlafsTer11
NM_001354263.2:c.3084del NP_001341192.1:p.Ser1029AlafsTer11