Canonical Allele Identifier: CA1130164398

Gene: EHMT1

Linked Data

• dbSNP Id: rs1955108470
• gnomAD v3: 9-137818480-C-CGGGCGCCGTGTACCAAGACCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAG
• gnomAD v4: 9-137818480-C-CGGGCGCCGTGTACCAAGACCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818499_137818500insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC , CM000671.2:g.137818499_137818500insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	GRCh38
NC_000009.11:g.140712951_140712952insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC , CM000671.1:g.140712951_140712952insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	GRCh37
NC_000009.10:g.139832772_139832773insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	NCBI36
NG_011776.1:g.204508_204509insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+361_3540+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC MANE Select	ENSP00000417980.1:n.3540+361_3540+362insCGTAGAGAGGCTGAGGGGGGG...
ENST00000636526.1:n.26+361_26+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC
ENST00000637161.1:c.3447+361_3447+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	ENSP00000490328.1:n.3447+361_3447+362insCGTAGAGAGGCTGAGGGGGGG...
ENST00000637261.1:c.4114+361_4114+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	ENSP00000490815.1:n.4114+361_4114+362insCGTAGAGAGGCTGAGGGGGGG...
ENST00000637748.1:n.521+361_521+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC
ENST00000637891.1:c.1614+361_1614+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	ENSP00000490907.1:n.1614+361_1614+362insCGTAGAGAGGCTGAGGGGGGG...
ENST00000460843.5:c.3540+361_3540+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	ENSP00000417980.1:n.3540+361_3540+362insCGTAGAGAGGCTGAGGGGGGG...
ENST00000462942.3:c.2397+361_2397+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	ENSP00000436107.1:n.2397+361_2397+362insCGTAGAGAGGCTGAGGGGGGG...
ENST00000475564.5:n.1264+361_1264+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC
ENST00000494249.5:n.893+361_893+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC
NM_024757.4:c.3540+361_3540+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	NP_079033.4:n.3540+361_3540+362insCGTAGAGAGGCTGAGGGGGGGCGCCAT...
XM_005266105.3:c.3531+361_3531+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_005266162.1:n.3531+361_3531+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_005266110.1:c.3447+361_3447+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_005266167.1:n.3447+361_3447+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_006717288.2:c.3522+361_3522+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_006717351.1:n.3522+361_3522+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519021.1:c.3549+361_3549+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517323.1:n.3549+361_3549+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519022.1:c.3546+361_3546+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517324.1:n.3546+361_3546+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519023.1:c.3528+361_3528+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517325.1:n.3528+361_3528+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519024.1:c.3471+361_3471+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517326.1:n.3471+361_3471+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519025.1:c.3447+361_3447+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517327.1:n.3447+361_3447+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519026.1:c.3405+361_3405+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517328.1:n.3405+361_3405+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519029.1:c.1971+361_1971+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517331.1:n.1971+361_1971+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519030.1:c.1323+361_1323+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517332.1:n.1323+361_1323+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519031.1:c.1110+361_1110+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517333.1:n.1110+361_1110+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519032.1:c.1110+361_1110+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517334.1:n.1110+361_1110+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519033.1:c.3384+361_3384+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517335.1:n.3384+361_3384+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XR_930459.1:n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACGGTCTTGGTACACGGCGCCC
NM_001354263.1:c.3519+361_3519+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	NP_001341192.1:n.3519+361_3519+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_005266105.5:c.3531+361_3531+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_005266162.1:n.3531+361_3531+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519021.3:c.3549+361_3549+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517323.1:n.3549+361_3549+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519022.3:c.3546+361_3546+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517324.1:n.3546+361_3546+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519023.3:c.3528+361_3528+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517325.1:n.3528+361_3528+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519029.3:c.1971+361_1971+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517331.1:n.1971+361_1971+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_011519030.3:c.1323+361_1323+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_011517332.1:n.1323+361_1323+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_017015134.1:c.3525+361_3525+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_016870623.1:n.3525+361_3525+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_017015136.2:c.3441+361_3441+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_016870625.1:n.3441+361_3441+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_017015137.1:c.3426+361_3426+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_016870626.1:n.3426+361_3426+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_017015138.1:c.3426+361_3426+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_016870627.1:n.3426+361_3426+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_024447674.1:c.3369+361_3369+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_024303442.1:n.3369+361_3369+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_024447675.1:c.3303+361_3303+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_024303443.1:n.3303+361_3303+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_024447676.1:c.2664+361_2664+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_024303444.1:n.2664+361_2664+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_024447677.1:c.2664+361_2664+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_024303445.1:n.2664+361_2664+362insCGTAGAGAGGCTGAGGGGGGGCGC...
XM_024447680.1:c.3282+361_3282+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	XP_024303448.1:n.3282+361_3282+362insCGTAGAGAGGCTGAGGGGGGGCGC...
NM_024757.5:c.3540+361_3540+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC MANE Select	NP_079033.4:n.3540+361_3540+362insCGTAGAGAGGCTGAGGGGGGGCGCCAT...
NM_001354263.2:c.3519+361_3519+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC	NP_001341192.1:n.3519+361_3519+362insCGTAGAGAGGCTGAGGGGGGGCGC...