Canonical Allele Identifier: CA2786319792
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137818524_137818525insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC , CM000671.2:g.137818524_137818525insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC GRCh38
NC_000009.11:g.140712976_140712977insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC , CM000671.1:g.140712976_140712977insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC GRCh37
NC_000009.10:g.139832797_139832798insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC NCBI36
NG_011776.1:g.204533_204534insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.3540+386_3540+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC MANE Select ENSP00000417980.1:n.3540+386_3540+387insCTGGACCGAGACTGTAGAGAG...
ENST00000636526.1:n.26+386_26+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC
ENST00000637161.1:c.3447+386_3447+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC ENSP00000490328.1:n.3447+386_3447+387insCTGGACCGAGACTGTAGAGAG...
ENST00000637261.1:c.4114+386_4114+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC ENSP00000490815.1:n.4114+386_4114+387insCTGGACCGAGACTGTAGAGAG...
ENST00000637748.1:n.521+386_521+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC
ENST00000637891.1:c.1614+386_1614+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC ENSP00000490907.1:n.1614+386_1614+387insCTGGACCGAGACTGTAGAGAG...
ENST00000460843.5:c.3540+386_3540+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC ENSP00000417980.1:n.3540+386_3540+387insCTGGACCGAGACTGTAGAGAG...
ENST00000462942.3:c.2397+386_2397+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC ENSP00000436107.1:n.2397+386_2397+387insCTGGACCGAGACTGTAGAGAG...
ENST00000475564.5:n.1264+386_1264+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC
ENST00000494249.5:n.893+386_893+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC
NM_024757.4:c.3540+386_3540+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC NP_079033.4:n.3540+386_3540+387insCTGGACCGAGACTGTAGAGAGGCCGAT...
XM_005266105.3:c.3531+386_3531+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_005266162.1:n.3531+386_3531+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_005266110.1:c.3447+386_3447+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_005266167.1:n.3447+386_3447+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_006717288.2:c.3522+386_3522+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_006717351.1:n.3522+386_3522+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519021.1:c.3549+386_3549+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517323.1:n.3549+386_3549+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519022.1:c.3546+386_3546+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517324.1:n.3546+386_3546+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519023.1:c.3528+386_3528+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517325.1:n.3528+386_3528+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519024.1:c.3471+386_3471+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517326.1:n.3471+386_3471+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519025.1:c.3447+386_3447+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517327.1:n.3447+386_3447+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519026.1:c.3405+386_3405+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517328.1:n.3405+386_3405+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519029.1:c.1971+386_1971+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517331.1:n.1971+386_1971+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519030.1:c.1323+386_1323+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517332.1:n.1323+386_1323+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519031.1:c.1110+386_1110+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517333.1:n.1110+386_1110+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519032.1:c.1110+386_1110+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517334.1:n.1110+386_1110+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519033.1:c.3384+386_3384+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517335.1:n.3384+386_3384+387insCTGGACCGAGACTGTAGAGAGGCC...
XR_930459.1:n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTCCAGGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC
NM_001354263.1:c.3519+386_3519+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC NP_001341192.1:n.3519+386_3519+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_005266105.5:c.3531+386_3531+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_005266162.1:n.3531+386_3531+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519021.3:c.3549+386_3549+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517323.1:n.3549+386_3549+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519022.3:c.3546+386_3546+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517324.1:n.3546+386_3546+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519023.3:c.3528+386_3528+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517325.1:n.3528+386_3528+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519029.3:c.1971+386_1971+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517331.1:n.1971+386_1971+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_011519030.3:c.1323+386_1323+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_011517332.1:n.1323+386_1323+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_017015134.1:c.3525+386_3525+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_016870623.1:n.3525+386_3525+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_017015136.2:c.3441+386_3441+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_016870625.1:n.3441+386_3441+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_017015137.1:c.3426+386_3426+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_016870626.1:n.3426+386_3426+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_017015138.1:c.3426+386_3426+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_016870627.1:n.3426+386_3426+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_024447674.1:c.3369+386_3369+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_024303442.1:n.3369+386_3369+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_024447675.1:c.3303+386_3303+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_024303443.1:n.3303+386_3303+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_024447676.1:c.2664+386_2664+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_024303444.1:n.2664+386_2664+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_024447677.1:c.2664+386_2664+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_024303445.1:n.2664+386_2664+387insCTGGACCGAGACTGTAGAGAGGCC...
XM_024447680.1:c.3282+386_3282+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC XP_024303448.1:n.3282+386_3282+387insCTGGACCGAGACTGTAGAGAGGCC...
NM_024757.5:c.3540+386_3540+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC MANE Select NP_079033.4:n.3540+386_3540+387insCTGGACCGAGACTGTAGAGAGGCCGAT...
NM_001354263.2:c.3519+386_3519+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC NP_001341192.1:n.3519+386_3519+387insCTGGACCGAGACTGTAGAGAGGCC...