Canonical Allele Identifier: CA2786319606
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813204_137813206del , CM000671.2:g.137813204_137813206del GRCh38
NC_000009.11:g.140707656_140707658del , CM000671.1:g.140707656_140707658del GRCh37
NC_000009.10:g.139827477_139827479del NCBI36
NG_011776.1:g.199213_199215del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.3035+31_3035+33del MANE Select ENSP00000417980.1:n.3035+31_3035+33del
ENST00000636027.1:c.2921+31_2921+33del ENSP00000489961.1:n.2921+31_2921+33del
ENST00000637161.1:c.2942+31_2942+33del ENSP00000490328.1:n.2942+31_2942+33del
ENST00000637261.1:c.3075+31_3075+33del ENSP00000490815.1:n.3075+31_3075+33del
ENST00000637891.1:c.929+31_929+33del ENSP00000490907.1:n.929+31_929+33del
ENST00000460843.5:c.3035+31_3035+33del ENSP00000417980.1:n.3035+31_3035+33del
ENST00000462942.3:c.1892+31_1892+33del ENSP00000436107.1:n.1892+31_1892+33del
ENST00000486164.5:c.722+31_722+33del
ENST00000488242.2:n.561+31_561+33del
NM_024757.4:c.3035+31_3035+33del NP_079033.4:n.3035+31_3035+33del
XM_005266105.3:c.3026+31_3026+33del XP_005266162.1:n.3026+31_3026+33del
XM_005266110.1:c.2942+31_2942+33del XP_005266167.1:n.2942+31_2942+33del
XM_006717288.2:c.3017+31_3017+33del XP_006717351.1:n.3017+31_3017+33del
XM_011519021.1:c.3044+31_3044+33del XP_011517323.1:n.3044+31_3044+33del
XM_011519022.1:c.3041+31_3041+33del XP_011517324.1:n.3041+31_3041+33del
XM_011519023.1:c.3023+31_3023+33del XP_011517325.1:n.3023+31_3023+33del
XM_011519024.1:c.2966+31_2966+33del XP_011517326.1:n.2966+31_2966+33del
XM_011519025.1:c.2942+31_2942+33del XP_011517327.1:n.2942+31_2942+33del
XM_011519026.1:c.2900+31_2900+33del XP_011517328.1:n.2900+31_2900+33del
XM_011519029.1:c.1466+31_1466+33del XP_011517331.1:n.1466+31_1466+33del
XM_011519030.1:c.818+31_818+33del XP_011517332.1:n.818+31_818+33del
XM_011519031.1:c.605+31_605+33del XP_011517333.1:n.605+31_605+33del
XM_011519032.1:c.605+31_605+33del XP_011517334.1:n.605+31_605+33del
XM_011519033.1:c.2879+31_2879+33del XP_011517335.1:n.2879+31_2879+33del
NM_001354263.1:c.3014+31_3014+33del NP_001341192.1:n.3014+31_3014+33del
XM_005266105.5:c.3026+31_3026+33del XP_005266162.1:n.3026+31_3026+33del
XM_011519021.3:c.3044+31_3044+33del XP_011517323.1:n.3044+31_3044+33del
XM_011519022.3:c.3041+31_3041+33del XP_011517324.1:n.3041+31_3041+33del
XM_011519023.3:c.3023+31_3023+33del XP_011517325.1:n.3023+31_3023+33del
XM_011519029.3:c.1466+31_1466+33del XP_011517331.1:n.1466+31_1466+33del
XM_011519030.3:c.818+31_818+33del XP_011517332.1:n.818+31_818+33del
XM_017015134.1:c.3020+31_3020+33del XP_016870623.1:n.3020+31_3020+33del
XM_017015136.2:c.2936+31_2936+33del XP_016870625.1:n.2936+31_2936+33del
XM_017015137.1:c.2921+31_2921+33del XP_016870626.1:n.2921+31_2921+33del
XM_017015138.1:c.2921+31_2921+33del XP_016870627.1:n.2921+31_2921+33del
XM_024447674.1:c.2864+31_2864+33del XP_024303442.1:n.2864+31_2864+33del
XM_024447675.1:c.2798+31_2798+33del XP_024303443.1:n.2798+31_2798+33del
XM_024447676.1:c.2159+31_2159+33del XP_024303444.1:n.2159+31_2159+33del
XM_024447677.1:c.2159+31_2159+33del XP_024303445.1:n.2159+31_2159+33del
XM_024447680.1:c.2777+31_2777+33del XP_024303448.1:n.2777+31_2777+33del
NM_024757.5:c.3035+31_3035+33del MANE Select NP_079033.4:n.3035+31_3035+33del
NM_001354263.2:c.3014+31_3014+33del NP_001341192.1:n.3014+31_3014+33del