Canonical Allele Identifier: CA1130164424

Gene: EHMT1

Linked Data

• dbSNP Id: rs1955110707
• gnomAD v3: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCAATTGAG
• gnomAD v4: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCAATTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818548_137818549insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC , CM000671.2:g.137818548_137818549insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	GRCh38
NC_000009.11:g.140713000_140713001insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC , CM000671.1:g.140713000_140713001insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	GRCh37
NC_000009.10:g.139832821_139832822insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	NCBI36
NG_011776.1:g.204557_204558insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+410_3540+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC MANE Select	ENSP00000417980.1:n.3540+410_3540+411insAATTGAGGGGCGCCGTGTACC...
ENST00000636526.1:n.26+410_26+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC
ENST00000637161.1:c.3447+410_3447+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	ENSP00000490328.1:n.3447+410_3447+411insAATTGAGGGGCGCCGTGTACC...
ENST00000637261.1:c.4114+410_4114+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	ENSP00000490815.1:n.4114+410_4114+411insAATTGAGGGGCGCCGTGTACC...
ENST00000637748.1:n.521+410_521+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC
ENST00000637891.1:c.1614+410_1614+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	ENSP00000490907.1:n.1614+410_1614+411insAATTGAGGGGCGCCGTGTACC...
ENST00000460843.5:c.3540+410_3540+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	ENSP00000417980.1:n.3540+410_3540+411insAATTGAGGGGCGCCGTGTACC...
ENST00000462942.3:c.2397+410_2397+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	ENSP00000436107.1:n.2397+410_2397+411insAATTGAGGGGCGCCGTGTACC...
ENST00000475564.5:n.1264+410_1264+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC
ENST00000494249.5:n.893+410_893+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC
NM_024757.4:c.3540+410_3540+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	NP_079033.4:n.3540+410_3540+411insAATTGAGGGGCGCCGTGTACCAAGACT...
XM_005266105.3:c.3531+410_3531+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_005266162.1:n.3531+410_3531+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_005266110.1:c.3447+410_3447+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_005266167.1:n.3447+410_3447+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_006717288.2:c.3522+410_3522+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_006717351.1:n.3522+410_3522+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519021.1:c.3549+410_3549+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517323.1:n.3549+410_3549+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519022.1:c.3546+410_3546+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517324.1:n.3546+410_3546+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519023.1:c.3528+410_3528+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517325.1:n.3528+410_3528+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519024.1:c.3471+410_3471+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517326.1:n.3471+410_3471+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519025.1:c.3447+410_3447+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517327.1:n.3447+410_3447+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519026.1:c.3405+410_3405+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517328.1:n.3405+410_3405+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519029.1:c.1971+410_1971+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517331.1:n.1971+410_1971+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519030.1:c.1323+410_1323+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517332.1:n.1323+410_1323+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519031.1:c.1110+410_1110+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517333.1:n.1110+410_1110+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519032.1:c.1110+410_1110+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517334.1:n.1110+410_1110+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519033.1:c.3384+410_3384+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517335.1:n.3384+410_3384+411insAATTGAGGGGCGCCGTGTACCAAG...
XR_930459.1:n.5297-3919_5297-3918insCTCAATTGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC
NM_001354263.1:c.3519+410_3519+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	NP_001341192.1:n.3519+410_3519+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_005266105.5:c.3531+410_3531+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_005266162.1:n.3531+410_3531+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519021.3:c.3549+410_3549+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517323.1:n.3549+410_3549+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519022.3:c.3546+410_3546+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517324.1:n.3546+410_3546+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519023.3:c.3528+410_3528+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517325.1:n.3528+410_3528+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519029.3:c.1971+410_1971+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517331.1:n.1971+410_1971+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_011519030.3:c.1323+410_1323+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_011517332.1:n.1323+410_1323+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_017015134.1:c.3525+410_3525+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_016870623.1:n.3525+410_3525+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_017015136.2:c.3441+410_3441+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_016870625.1:n.3441+410_3441+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_017015137.1:c.3426+410_3426+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_016870626.1:n.3426+410_3426+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_017015138.1:c.3426+410_3426+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_016870627.1:n.3426+410_3426+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_024447674.1:c.3369+410_3369+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_024303442.1:n.3369+410_3369+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_024447675.1:c.3303+410_3303+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_024303443.1:n.3303+410_3303+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_024447676.1:c.2664+410_2664+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_024303444.1:n.2664+410_2664+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_024447677.1:c.2664+410_2664+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_024303445.1:n.2664+410_2664+411insAATTGAGGGGCGCCGTGTACCAAG...
XM_024447680.1:c.3282+410_3282+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	XP_024303448.1:n.3282+410_3282+411insAATTGAGGGGCGCCGTGTACCAAG...
NM_024757.5:c.3540+410_3540+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC MANE Select	NP_079033.4:n.3540+410_3540+411insAATTGAGGGGCGCCGTGTACCAAGACT...
NM_001354263.2:c.3519+410_3519+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC	NP_001341192.1:n.3519+410_3519+411insAATTGAGGGGCGCCGTGTACCAAG...