Canonical Allele Identifier: CA1130164420

Gene: EHMT1

Linked Data

• gnomAD v3: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAG
• gnomAD v4: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818536_137818537insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC , CM000671.2:g.137818536_137818537insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	GRCh38
NC_000009.11:g.140712988_140712989insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC , CM000671.1:g.140712988_140712989insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	GRCh37
NC_000009.10:g.139832809_139832810insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	NCBI36
NG_011776.1:g.204545_204546insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+398_3540+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC MANE Select	ENSP00000417980.1:n.3540+398_3540+399insCGTAGAGAGGCCGATTGAGGG...
ENST00000636526.1:n.26+398_26+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC
ENST00000637161.1:c.3447+398_3447+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	ENSP00000490328.1:n.3447+398_3447+399insCGTAGAGAGGCCGATTGAGGG...
ENST00000637261.1:c.4114+398_4114+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	ENSP00000490815.1:n.4114+398_4114+399insCGTAGAGAGGCCGATTGAGGG...
ENST00000637748.1:n.521+398_521+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC
ENST00000637891.1:c.1614+398_1614+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	ENSP00000490907.1:n.1614+398_1614+399insCGTAGAGAGGCCGATTGAGGG...
ENST00000460843.5:c.3540+398_3540+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	ENSP00000417980.1:n.3540+398_3540+399insCGTAGAGAGGCCGATTGAGGG...
ENST00000462942.3:c.2397+398_2397+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	ENSP00000436107.1:n.2397+398_2397+399insCGTAGAGAGGCCGATTGAGGG...
ENST00000475564.5:n.1264+398_1264+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC
ENST00000494249.5:n.893+398_893+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC
NM_024757.4:c.3540+398_3540+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	NP_079033.4:n.3540+398_3540+399insCGTAGAGAGGCCGATTGAGGGGCGCCG...
XM_005266105.3:c.3531+398_3531+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_005266162.1:n.3531+398_3531+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_005266110.1:c.3447+398_3447+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_005266167.1:n.3447+398_3447+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_006717288.2:c.3522+398_3522+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_006717351.1:n.3522+398_3522+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519021.1:c.3549+398_3549+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517323.1:n.3549+398_3549+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519022.1:c.3546+398_3546+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517324.1:n.3546+398_3546+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519023.1:c.3528+398_3528+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517325.1:n.3528+398_3528+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519024.1:c.3471+398_3471+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517326.1:n.3471+398_3471+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519025.1:c.3447+398_3447+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517327.1:n.3447+398_3447+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519026.1:c.3405+398_3405+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517328.1:n.3405+398_3405+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519029.1:c.1971+398_1971+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517331.1:n.1971+398_1971+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519030.1:c.1323+398_1323+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517332.1:n.1323+398_1323+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519031.1:c.1110+398_1110+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517333.1:n.1110+398_1110+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519032.1:c.1110+398_1110+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517334.1:n.1110+398_1110+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519033.1:c.3384+398_3384+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517335.1:n.3384+398_3384+399insCGTAGAGAGGCCGATTGAGGGGCG...
XR_930459.1:n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACGGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC
NM_001354263.1:c.3519+398_3519+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	NP_001341192.1:n.3519+398_3519+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_005266105.5:c.3531+398_3531+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_005266162.1:n.3531+398_3531+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519021.3:c.3549+398_3549+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517323.1:n.3549+398_3549+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519022.3:c.3546+398_3546+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517324.1:n.3546+398_3546+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519023.3:c.3528+398_3528+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517325.1:n.3528+398_3528+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519029.3:c.1971+398_1971+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517331.1:n.1971+398_1971+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_011519030.3:c.1323+398_1323+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_011517332.1:n.1323+398_1323+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_017015134.1:c.3525+398_3525+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_016870623.1:n.3525+398_3525+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_017015136.2:c.3441+398_3441+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_016870625.1:n.3441+398_3441+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_017015137.1:c.3426+398_3426+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_016870626.1:n.3426+398_3426+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_017015138.1:c.3426+398_3426+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_016870627.1:n.3426+398_3426+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_024447674.1:c.3369+398_3369+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_024303442.1:n.3369+398_3369+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_024447675.1:c.3303+398_3303+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_024303443.1:n.3303+398_3303+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_024447676.1:c.2664+398_2664+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_024303444.1:n.2664+398_2664+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_024447677.1:c.2664+398_2664+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_024303445.1:n.2664+398_2664+399insCGTAGAGAGGCCGATTGAGGGGCG...
XM_024447680.1:c.3282+398_3282+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	XP_024303448.1:n.3282+398_3282+399insCGTAGAGAGGCCGATTGAGGGGCG...
NM_024757.5:c.3540+398_3540+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC MANE Select	NP_079033.4:n.3540+398_3540+399insCGTAGAGAGGCCGATTGAGGGGCGCCG...
NM_001354263.2:c.3519+398_3519+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC	NP_001341192.1:n.3519+398_3519+399insCGTAGAGAGGCCGATTGAGGGGCG...