Canonical Allele Identifier: CA1884666543
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137776854_137776874delinsACAGGCTCTGGCTGGGCTCTC , CM000671.2:g.137776854_137776874delinsACAGGCTCTGGCTGGGCTCTC GRCh38
NC_000009.11:g.140671306_140671326delinsACAGGCTCTGGCTGGGCTCTC , CM000671.1:g.140671306_140671326delinsACAGGCTCTGGCTGGGCTCTC GRCh37
NC_000009.10:g.139791127_139791147delinsACAGGCTCTGGCTGGGCTCTC NCBI36
NG_011776.1:g.162863_162883delinsACAGGCTCTGGCTGGGCTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC MANE Select ENSP00000417980.1:n.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCT...
ENST00000636027.1:c.1904+10_1904+30delinsACAGGCTCTGGCTGGGCTCTC ENSP00000489961.1:n.1904+10_1904+30delinsACAGGCTCTGGCTGGGCTCT...
ENST00000637161.1:c.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC ENSP00000490328.1:n.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCT...
ENST00000637261.1:c.2058+10_2058+30delinsACAGGCTCTGGCTGGGCTCTC ENSP00000490815.1:n.2058+10_2058+30delinsACAGGCTCTGGCTGGGCTCT...
ENST00000638071.1:c.1645+10_1645+30delinsACAGGCTCTGGCTGGGCTCTC
ENST00000371394.6:c.*1753+10_*1753+30delinsACAGGCTCTGGCTGGGCTCTC ENSP00000485945.1:n.*1753+10_*1753+30delinsACAGGCTCTGGCTGGGCT...
ENST00000460843.5:c.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC ENSP00000417980.1:n.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCT...
ENST00000462484.5:c.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC ENSP00000417328.1:n.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCT...
ENST00000462942.3:c.875+10_875+30delinsACAGGCTCTGGCTGGGCTCTC ENSP00000436107.1:n.875+10_875+30delinsACAGGCTCTGGCTGGGCTCTC
ENST00000626603.1:n.1575_1595delinsGAGAGCCCAGCCAGAGCCTGT
NM_001145527.1:c.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC NP_001138999.1:n.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC
NM_024757.4:c.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC NP_079033.4:n.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC
XM_005266105.3:c.2009+10_2009+30delinsACAGGCTCTGGCTGGGCTCTC XP_005266162.1:n.2009+10_2009+30delinsACAGGCTCTGGCTGGGCTCTC
XM_005266110.1:c.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC XP_005266167.1:n.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC
XM_006717288.2:c.2000+10_2000+30delinsACAGGCTCTGGCTGGGCTCTC XP_006717351.1:n.2000+10_2000+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519021.1:c.2027+10_2027+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517323.1:n.2027+10_2027+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519022.1:c.2024+10_2024+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517324.1:n.2024+10_2024+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519023.1:c.2006+10_2006+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517325.1:n.2006+10_2006+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519024.1:c.1949+10_1949+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517326.1:n.1949+10_1949+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519025.1:c.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517327.1:n.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519026.1:c.1883+10_1883+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517328.1:n.1883+10_1883+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519027.1:c.2027+10_2027+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517329.1:n.2027+10_2027+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519028.1:c.2027+10_2027+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517330.1:n.2027+10_2027+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519029.1:c.449+10_449+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517331.1:n.449+10_449+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519033.1:c.1862+10_1862+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517335.1:n.1862+10_1862+30delinsACAGGCTCTGGCTGGGCTCTC
NM_001354259.1:c.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC NP_001341188.1:n.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC
NM_001354263.1:c.1997+10_1997+30delinsACAGGCTCTGGCTGGGCTCTC NP_001341192.1:n.1997+10_1997+30delinsACAGGCTCTGGCTGGGCTCTC
XM_005266105.5:c.2009+10_2009+30delinsACAGGCTCTGGCTGGGCTCTC XP_005266162.1:n.2009+10_2009+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519021.3:c.2027+10_2027+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517323.1:n.2027+10_2027+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519022.3:c.2024+10_2024+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517324.1:n.2024+10_2024+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519023.3:c.2006+10_2006+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517325.1:n.2006+10_2006+30delinsACAGGCTCTGGCTGGGCTCTC
XM_011519029.3:c.449+10_449+30delinsACAGGCTCTGGCTGGGCTCTC XP_011517331.1:n.449+10_449+30delinsACAGGCTCTGGCTGGGCTCTC
XM_017015134.1:c.2003+10_2003+30delinsACAGGCTCTGGCTGGGCTCTC XP_016870623.1:n.2003+10_2003+30delinsACAGGCTCTGGCTGGGCTCTC
XM_017015136.2:c.1919+10_1919+30delinsACAGGCTCTGGCTGGGCTCTC XP_016870625.1:n.1919+10_1919+30delinsACAGGCTCTGGCTGGGCTCTC
XM_017015137.1:c.1904+10_1904+30delinsACAGGCTCTGGCTGGGCTCTC XP_016870626.1:n.1904+10_1904+30delinsACAGGCTCTGGCTGGGCTCTC
XM_017015138.1:c.1904+10_1904+30delinsACAGGCTCTGGCTGGGCTCTC XP_016870627.1:n.1904+10_1904+30delinsACAGGCTCTGGCTGGGCTCTC
XM_024447674.1:c.1847+10_1847+30delinsACAGGCTCTGGCTGGGCTCTC XP_024303442.1:n.1847+10_1847+30delinsACAGGCTCTGGCTGGGCTCTC
XM_024447675.1:c.1781+10_1781+30delinsACAGGCTCTGGCTGGGCTCTC XP_024303443.1:n.1781+10_1781+30delinsACAGGCTCTGGCTGGGCTCTC
XM_024447676.1:c.1142+10_1142+30delinsACAGGCTCTGGCTGGGCTCTC XP_024303444.1:n.1142+10_1142+30delinsACAGGCTCTGGCTGGGCTCTC
XM_024447677.1:c.1142+10_1142+30delinsACAGGCTCTGGCTGGGCTCTC XP_024303445.1:n.1142+10_1142+30delinsACAGGCTCTGGCTGGGCTCTC
XM_024447678.1:c.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC XP_024303446.1:n.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC
XM_024447679.1:c.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC XP_024303447.1:n.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC
XM_024447680.1:c.1760+10_1760+30delinsACAGGCTCTGGCTGGGCTCTC XP_024303448.1:n.1760+10_1760+30delinsACAGGCTCTGGCTGGGCTCTC
NM_024757.5:c.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC MANE Select NP_079033.4:n.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC
NM_001145527.2:c.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC NP_001138999.1:n.2018+10_2018+30delinsACAGGCTCTGGCTGGGCTCTC
NM_001354259.2:c.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC NP_001341188.1:n.1925+10_1925+30delinsACAGGCTCTGGCTGGGCTCTC
NM_001354263.2:c.1997+10_1997+30delinsACAGGCTCTGGCTGGGCTCTC NP_001341192.1:n.1997+10_1997+30delinsACAGGCTCTGGCTGGGCTCTC