Canonical Allele Identifier: CA2520908776

Gene: EHMT1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818547_137818548insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC , CM000671.2:g.137818547_137818548insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	GRCh38
NC_000009.11:g.140712999_140713000insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC , CM000671.1:g.140712999_140713000insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	GRCh37
NC_000009.10:g.139832820_139832821insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	NCBI36
NG_011776.1:g.204556_204557insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+409_3540+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC MANE Select	ENSP00000417980.1:n.3540+409_3540+410insTGAGGGGGGGCGCCATGTACC...
ENST00000636526.1:n.26+409_26+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC
ENST00000637161.1:c.3447+409_3447+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	ENSP00000490328.1:n.3447+409_3447+410insTGAGGGGGGGCGCCATGTACC...
ENST00000637261.1:c.4114+409_4114+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	ENSP00000490815.1:n.4114+409_4114+410insTGAGGGGGGGCGCCATGTACC...
ENST00000637748.1:n.521+409_521+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC
ENST00000637891.1:c.1614+409_1614+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	ENSP00000490907.1:n.1614+409_1614+410insTGAGGGGGGGCGCCATGTACC...
ENST00000460843.5:c.3540+409_3540+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	ENSP00000417980.1:n.3540+409_3540+410insTGAGGGGGGGCGCCATGTACC...
ENST00000462942.3:c.2397+409_2397+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	ENSP00000436107.1:n.2397+409_2397+410insTGAGGGGGGGCGCCATGTACC...
ENST00000475564.5:n.1264+409_1264+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC
ENST00000494249.5:n.893+409_893+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC
NM_024757.4:c.3540+409_3540+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	NP_079033.4:n.3540+409_3540+410insTGAGGGGGGGCGCCATGTACCGAGACT...
XM_005266105.3:c.3531+409_3531+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_005266162.1:n.3531+409_3531+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_005266110.1:c.3447+409_3447+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_005266167.1:n.3447+409_3447+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_006717288.2:c.3522+409_3522+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_006717351.1:n.3522+409_3522+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519021.1:c.3549+409_3549+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517323.1:n.3549+409_3549+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519022.1:c.3546+409_3546+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517324.1:n.3546+409_3546+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519023.1:c.3528+409_3528+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517325.1:n.3528+409_3528+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519024.1:c.3471+409_3471+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517326.1:n.3471+409_3471+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519025.1:c.3447+409_3447+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517327.1:n.3447+409_3447+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519026.1:c.3405+409_3405+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517328.1:n.3405+409_3405+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519029.1:c.1971+409_1971+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517331.1:n.1971+409_1971+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519030.1:c.1323+409_1323+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517332.1:n.1323+409_1323+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519031.1:c.1110+409_1110+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517333.1:n.1110+409_1110+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519032.1:c.1110+409_1110+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517334.1:n.1110+409_1110+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519033.1:c.3384+409_3384+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517335.1:n.3384+409_3384+410insTGAGGGGGGGCGCCATGTACCGAG...
XR_930459.1:n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC
NM_001354263.1:c.3519+409_3519+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	NP_001341192.1:n.3519+409_3519+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_005266105.5:c.3531+409_3531+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_005266162.1:n.3531+409_3531+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519021.3:c.3549+409_3549+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517323.1:n.3549+409_3549+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519022.3:c.3546+409_3546+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517324.1:n.3546+409_3546+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519023.3:c.3528+409_3528+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517325.1:n.3528+409_3528+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519029.3:c.1971+409_1971+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517331.1:n.1971+409_1971+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_011519030.3:c.1323+409_1323+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_011517332.1:n.1323+409_1323+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_017015134.1:c.3525+409_3525+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_016870623.1:n.3525+409_3525+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_017015136.2:c.3441+409_3441+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_016870625.1:n.3441+409_3441+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_017015137.1:c.3426+409_3426+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_016870626.1:n.3426+409_3426+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_017015138.1:c.3426+409_3426+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_016870627.1:n.3426+409_3426+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_024447674.1:c.3369+409_3369+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_024303442.1:n.3369+409_3369+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_024447675.1:c.3303+409_3303+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_024303443.1:n.3303+409_3303+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_024447676.1:c.2664+409_2664+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_024303444.1:n.2664+409_2664+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_024447677.1:c.2664+409_2664+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_024303445.1:n.2664+409_2664+410insTGAGGGGGGGCGCCATGTACCGAG...
XM_024447680.1:c.3282+409_3282+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	XP_024303448.1:n.3282+409_3282+410insTGAGGGGGGGCGCCATGTACCGAG...
NM_024757.5:c.3540+409_3540+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC MANE Select	NP_079033.4:n.3540+409_3540+410insTGAGGGGGGGCGCCATGTACCGAGACT...
NM_001354263.2:c.3519+409_3519+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC	NP_001341192.1:n.3519+409_3519+410insTGAGGGGGGGCGCCATGTACCGAG...