Canonical Allele Identifier: CA1130164389

Gene: EHMT1

Linked Data

• dbSNP Id: rs1955110316
• gnomAD v3: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACTGAGACTGTAGAGAGGCCGATTGAG
• gnomAD v4: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACTGAGACTGTAGAGAGGCCGATTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818530_137818531insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC , CM000671.2:g.137818530_137818531insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	GRCh38
NC_000009.11:g.140712982_140712983insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC , CM000671.1:g.140712982_140712983insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	GRCh37
NC_000009.10:g.139832803_139832804insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	NCBI36
NG_011776.1:g.204539_204540insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+392_3540+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC MANE Select	ENSP00000417980.1:n.3540+392_3540+393insTGAGACTGTAGAGAGGCCGAT...
ENST00000636526.1:n.26+392_26+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC
ENST00000637161.1:c.3447+392_3447+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	ENSP00000490328.1:n.3447+392_3447+393insTGAGACTGTAGAGAGGCCGAT...
ENST00000637261.1:c.4114+392_4114+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	ENSP00000490815.1:n.4114+392_4114+393insTGAGACTGTAGAGAGGCCGAT...
ENST00000637748.1:n.521+392_521+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC
ENST00000637891.1:c.1614+392_1614+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	ENSP00000490907.1:n.1614+392_1614+393insTGAGACTGTAGAGAGGCCGAT...
ENST00000460843.5:c.3540+392_3540+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	ENSP00000417980.1:n.3540+392_3540+393insTGAGACTGTAGAGAGGCCGAT...
ENST00000462942.3:c.2397+392_2397+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	ENSP00000436107.1:n.2397+392_2397+393insTGAGACTGTAGAGAGGCCGAT...
ENST00000475564.5:n.1264+392_1264+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC
ENST00000494249.5:n.893+392_893+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC
NM_024757.4:c.3540+392_3540+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	NP_079033.4:n.3540+392_3540+393insTGAGACTGTAGAGAGGCCGATTGAGGG...
XM_005266105.3:c.3531+392_3531+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_005266162.1:n.3531+392_3531+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_005266110.1:c.3447+392_3447+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_005266167.1:n.3447+392_3447+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_006717288.2:c.3522+392_3522+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_006717351.1:n.3522+392_3522+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519021.1:c.3549+392_3549+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517323.1:n.3549+392_3549+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519022.1:c.3546+392_3546+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517324.1:n.3546+392_3546+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519023.1:c.3528+392_3528+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517325.1:n.3528+392_3528+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519024.1:c.3471+392_3471+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517326.1:n.3471+392_3471+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519025.1:c.3447+392_3447+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517327.1:n.3447+392_3447+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519026.1:c.3405+392_3405+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517328.1:n.3405+392_3405+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519029.1:c.1971+392_1971+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517331.1:n.1971+392_1971+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519030.1:c.1323+392_1323+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517332.1:n.1323+392_1323+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519031.1:c.1110+392_1110+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517333.1:n.1110+392_1110+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519032.1:c.1110+392_1110+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517334.1:n.1110+392_1110+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519033.1:c.3384+392_3384+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517335.1:n.3384+392_3384+393insTGAGACTGTAGAGAGGCCGATTGA...
XR_930459.1:n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCAGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC
NM_001354263.1:c.3519+392_3519+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	NP_001341192.1:n.3519+392_3519+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_005266105.5:c.3531+392_3531+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_005266162.1:n.3531+392_3531+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519021.3:c.3549+392_3549+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517323.1:n.3549+392_3549+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519022.3:c.3546+392_3546+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517324.1:n.3546+392_3546+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519023.3:c.3528+392_3528+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517325.1:n.3528+392_3528+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519029.3:c.1971+392_1971+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517331.1:n.1971+392_1971+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_011519030.3:c.1323+392_1323+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_011517332.1:n.1323+392_1323+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_017015134.1:c.3525+392_3525+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_016870623.1:n.3525+392_3525+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_017015136.2:c.3441+392_3441+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_016870625.1:n.3441+392_3441+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_017015137.1:c.3426+392_3426+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_016870626.1:n.3426+392_3426+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_017015138.1:c.3426+392_3426+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_016870627.1:n.3426+392_3426+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_024447674.1:c.3369+392_3369+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_024303442.1:n.3369+392_3369+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_024447675.1:c.3303+392_3303+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_024303443.1:n.3303+392_3303+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_024447676.1:c.2664+392_2664+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_024303444.1:n.2664+392_2664+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_024447677.1:c.2664+392_2664+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_024303445.1:n.2664+392_2664+393insTGAGACTGTAGAGAGGCCGATTGA...
XM_024447680.1:c.3282+392_3282+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	XP_024303448.1:n.3282+392_3282+393insTGAGACTGTAGAGAGGCCGATTGA...
NM_024757.5:c.3540+392_3540+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC MANE Select	NP_079033.4:n.3540+392_3540+393insTGAGACTGTAGAGAGGCCGATTGAGGG...
NM_001354263.2:c.3519+392_3519+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC	NP_001341192.1:n.3519+392_3519+393insTGAGACTGTAGAGAGGCCGATTGA...