Canonical Allele Identifier: CA1130164417

Gene: EHMT1

Linked Data

• dbSNP Id: rs1955110511
• gnomAD v3: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACCGTAGAGAGGCCGACTGAG
• gnomAD v4: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACCGTAGAGAGGCCGACTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818531_137818532insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC , CM000671.2:g.137818531_137818532insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	GRCh38
NC_000009.11:g.140712983_140712984insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC , CM000671.1:g.140712983_140712984insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	GRCh37
NC_000009.10:g.139832804_139832805insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	NCBI36
NG_011776.1:g.204540_204541insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+393_3540+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC MANE Select	ENSP00000417980.1:n.3540+393_3540+394insAAGACCGTAGAGAGGCCGACT...
ENST00000636526.1:n.26+393_26+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC
ENST00000637161.1:c.3447+393_3447+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	ENSP00000490328.1:n.3447+393_3447+394insAAGACCGTAGAGAGGCCGACT...
ENST00000637261.1:c.4114+393_4114+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	ENSP00000490815.1:n.4114+393_4114+394insAAGACCGTAGAGAGGCCGACT...
ENST00000637748.1:n.521+393_521+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC
ENST00000637891.1:c.1614+393_1614+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	ENSP00000490907.1:n.1614+393_1614+394insAAGACCGTAGAGAGGCCGACT...
ENST00000460843.5:c.3540+393_3540+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	ENSP00000417980.1:n.3540+393_3540+394insAAGACCGTAGAGAGGCCGACT...
ENST00000462942.3:c.2397+393_2397+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	ENSP00000436107.1:n.2397+393_2397+394insAAGACCGTAGAGAGGCCGACT...
ENST00000475564.5:n.1264+393_1264+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC
ENST00000494249.5:n.893+393_893+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC
NM_024757.4:c.3540+393_3540+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	NP_079033.4:n.3540+393_3540+394insAAGACCGTAGAGAGGCCGACTGAGGGG...
XM_005266105.3:c.3531+393_3531+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_005266162.1:n.3531+393_3531+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_005266110.1:c.3447+393_3447+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_005266167.1:n.3447+393_3447+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_006717288.2:c.3522+393_3522+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_006717351.1:n.3522+393_3522+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519021.1:c.3549+393_3549+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517323.1:n.3549+393_3549+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519022.1:c.3546+393_3546+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517324.1:n.3546+393_3546+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519023.1:c.3528+393_3528+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517325.1:n.3528+393_3528+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519024.1:c.3471+393_3471+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517326.1:n.3471+393_3471+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519025.1:c.3447+393_3447+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517327.1:n.3447+393_3447+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519026.1:c.3405+393_3405+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517328.1:n.3405+393_3405+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519029.1:c.1971+393_1971+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517331.1:n.1971+393_1971+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519030.1:c.1323+393_1323+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517332.1:n.1323+393_1323+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519031.1:c.1110+393_1110+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517333.1:n.1110+393_1110+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519032.1:c.1110+393_1110+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517334.1:n.1110+393_1110+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519033.1:c.3384+393_3384+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517335.1:n.3384+393_3384+394insAAGACCGTAGAGAGGCCGACTGAG...
XR_930459.1:n.5297-3919_5297-3918insCTCAGTCGGCCTCTCTACGGTCTTGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC
NM_001354263.1:c.3519+393_3519+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	NP_001341192.1:n.3519+393_3519+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_005266105.5:c.3531+393_3531+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_005266162.1:n.3531+393_3531+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519021.3:c.3549+393_3549+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517323.1:n.3549+393_3549+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519022.3:c.3546+393_3546+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517324.1:n.3546+393_3546+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519023.3:c.3528+393_3528+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517325.1:n.3528+393_3528+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519029.3:c.1971+393_1971+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517331.1:n.1971+393_1971+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_011519030.3:c.1323+393_1323+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_011517332.1:n.1323+393_1323+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_017015134.1:c.3525+393_3525+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_016870623.1:n.3525+393_3525+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_017015136.2:c.3441+393_3441+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_016870625.1:n.3441+393_3441+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_017015137.1:c.3426+393_3426+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_016870626.1:n.3426+393_3426+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_017015138.1:c.3426+393_3426+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_016870627.1:n.3426+393_3426+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_024447674.1:c.3369+393_3369+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_024303442.1:n.3369+393_3369+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_024447675.1:c.3303+393_3303+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_024303443.1:n.3303+393_3303+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_024447676.1:c.2664+393_2664+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_024303444.1:n.2664+393_2664+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_024447677.1:c.2664+393_2664+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_024303445.1:n.2664+393_2664+394insAAGACCGTAGAGAGGCCGACTGAG...
XM_024447680.1:c.3282+393_3282+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	XP_024303448.1:n.3282+393_3282+394insAAGACCGTAGAGAGGCCGACTGAG...
NM_024757.5:c.3540+393_3540+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC MANE Select	NP_079033.4:n.3540+393_3540+394insAAGACCGTAGAGAGGCCGACTGAGGGG...
NM_001354263.2:c.3519+393_3519+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC	NP_001341192.1:n.3519+393_3519+394insAAGACCGTAGAGAGGCCGACTGAG...