Canonical Allele Identifier: CA1130164397

Gene: EHMT1

Linked Data

• dbSNP Id: rs1955107866
• gnomAD v3: 9-137818480-C-CGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAG
• gnomAD v4: 9-137818480-C-CGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818481_137818482insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG , CM000671.2:g.137818481_137818482insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	GRCh38
NC_000009.11:g.140712933_140712934insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG , CM000671.1:g.140712933_140712934insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	GRCh37
NC_000009.10:g.139832754_139832755insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	NCBI36
NG_011776.1:g.204490_204491insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+343_3540+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG MANE Select	ENSP00000417980.1:n.3540+343_3540+344insCCGTGTACCAAGACTGTAGAG...
ENST00000636526.1:n.26+343_26+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG
ENST00000637161.1:c.3447+343_3447+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	ENSP00000490328.1:n.3447+343_3447+344insCCGTGTACCAAGACTGTAGAG...
ENST00000637261.1:c.4114+343_4114+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	ENSP00000490815.1:n.4114+343_4114+344insCCGTGTACCAAGACTGTAGAG...
ENST00000637748.1:n.521+343_521+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG
ENST00000637891.1:c.1614+343_1614+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	ENSP00000490907.1:n.1614+343_1614+344insCCGTGTACCAAGACTGTAGAG...
ENST00000460843.5:c.3540+343_3540+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	ENSP00000417980.1:n.3540+343_3540+344insCCGTGTACCAAGACTGTAGAG...
ENST00000462942.3:c.2397+343_2397+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	ENSP00000436107.1:n.2397+343_2397+344insCCGTGTACCAAGACTGTAGAG...
ENST00000475564.5:n.1264+343_1264+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG
ENST00000494249.5:n.893+343_893+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG
NM_024757.4:c.3540+343_3540+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	NP_079033.4:n.3540+343_3540+344insCCGTGTACCAAGACTGTAGAGAGGCTG...
XM_005266105.3:c.3531+343_3531+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_005266162.1:n.3531+343_3531+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_005266110.1:c.3447+343_3447+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_005266167.1:n.3447+343_3447+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_006717288.2:c.3522+343_3522+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_006717351.1:n.3522+343_3522+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519021.1:c.3549+343_3549+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517323.1:n.3549+343_3549+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519022.1:c.3546+343_3546+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517324.1:n.3546+343_3546+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519023.1:c.3528+343_3528+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517325.1:n.3528+343_3528+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519024.1:c.3471+343_3471+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517326.1:n.3471+343_3471+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519025.1:c.3447+343_3447+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517327.1:n.3447+343_3447+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519026.1:c.3405+343_3405+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517328.1:n.3405+343_3405+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519029.1:c.1971+343_1971+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517331.1:n.1971+343_1971+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519030.1:c.1323+343_1323+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517332.1:n.1323+343_1323+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519031.1:c.1110+343_1110+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517333.1:n.1110+343_1110+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519032.1:c.1110+343_1110+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517334.1:n.1110+343_1110+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519033.1:c.3384+343_3384+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517335.1:n.3384+343_3384+344insCCGTGTACCAAGACTGTAGAGAGG...
XR_930459.1:n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGC
NM_001354263.1:c.3519+343_3519+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	NP_001341192.1:n.3519+343_3519+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_005266105.5:c.3531+343_3531+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_005266162.1:n.3531+343_3531+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519021.3:c.3549+343_3549+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517323.1:n.3549+343_3549+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519022.3:c.3546+343_3546+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517324.1:n.3546+343_3546+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519023.3:c.3528+343_3528+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517325.1:n.3528+343_3528+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519029.3:c.1971+343_1971+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517331.1:n.1971+343_1971+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_011519030.3:c.1323+343_1323+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_011517332.1:n.1323+343_1323+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_017015134.1:c.3525+343_3525+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_016870623.1:n.3525+343_3525+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_017015136.2:c.3441+343_3441+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_016870625.1:n.3441+343_3441+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_017015137.1:c.3426+343_3426+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_016870626.1:n.3426+343_3426+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_017015138.1:c.3426+343_3426+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_016870627.1:n.3426+343_3426+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_024447674.1:c.3369+343_3369+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_024303442.1:n.3369+343_3369+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_024447675.1:c.3303+343_3303+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_024303443.1:n.3303+343_3303+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_024447676.1:c.2664+343_2664+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_024303444.1:n.2664+343_2664+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_024447677.1:c.2664+343_2664+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_024303445.1:n.2664+343_2664+344insCCGTGTACCAAGACTGTAGAGAGG...
XM_024447680.1:c.3282+343_3282+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	XP_024303448.1:n.3282+343_3282+344insCCGTGTACCAAGACTGTAGAGAGG...
NM_024757.5:c.3540+343_3540+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG MANE Select	NP_079033.4:n.3540+343_3540+344insCCGTGTACCAAGACTGTAGAGAGGCTG...
NM_001354263.2:c.3519+343_3519+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG	NP_001341192.1:n.3519+343_3519+344insCCGTGTACCAAGACTGTAGAGAGG...