Canonical Allele Identifier: CA1130164394

Gene: EHMT1

Linked Data

• dbSNP Id: rs1955109195
• gnomAD v3: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAG
• gnomAD v4: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818513_137818514insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA , CM000671.2:g.137818513_137818514insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	GRCh38
NC_000009.11:g.140712965_140712966insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA , CM000671.1:g.140712965_140712966insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	GRCh37
NC_000009.10:g.139832786_139832787insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	NCBI36
NG_011776.1:g.204522_204523insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+375_3540+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA MANE Select	ENSP00000417980.1:n.3540+375_3540+376insAGGGGGGCGCCATGTACCGAG...
ENST00000636526.1:n.26+375_26+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA
ENST00000637161.1:c.3447+375_3447+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	ENSP00000490328.1:n.3447+375_3447+376insAGGGGGGCGCCATGTACCGAG...
ENST00000637261.1:c.4114+375_4114+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	ENSP00000490815.1:n.4114+375_4114+376insAGGGGGGCGCCATGTACCGAG...
ENST00000637748.1:n.521+375_521+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA
ENST00000637891.1:c.1614+375_1614+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	ENSP00000490907.1:n.1614+375_1614+376insAGGGGGGCGCCATGTACCGAG...
ENST00000460843.5:c.3540+375_3540+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	ENSP00000417980.1:n.3540+375_3540+376insAGGGGGGCGCCATGTACCGAG...
ENST00000462942.3:c.2397+375_2397+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	ENSP00000436107.1:n.2397+375_2397+376insAGGGGGGCGCCATGTACCGAG...
ENST00000475564.5:n.1264+375_1264+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA
ENST00000494249.5:n.893+375_893+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA
NM_024757.4:c.3540+375_3540+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	NP_079033.4:n.3540+375_3540+376insAGGGGGGCGCCATGTACCGAGACTGTA...
XM_005266105.3:c.3531+375_3531+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_005266162.1:n.3531+375_3531+376insAGGGGGGCGCCATGTACCGAGACT...
XM_005266110.1:c.3447+375_3447+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_005266167.1:n.3447+375_3447+376insAGGGGGGCGCCATGTACCGAGACT...
XM_006717288.2:c.3522+375_3522+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_006717351.1:n.3522+375_3522+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519021.1:c.3549+375_3549+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517323.1:n.3549+375_3549+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519022.1:c.3546+375_3546+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517324.1:n.3546+375_3546+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519023.1:c.3528+375_3528+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517325.1:n.3528+375_3528+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519024.1:c.3471+375_3471+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517326.1:n.3471+375_3471+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519025.1:c.3447+375_3447+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517327.1:n.3447+375_3447+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519026.1:c.3405+375_3405+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517328.1:n.3405+375_3405+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519029.1:c.1971+375_1971+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517331.1:n.1971+375_1971+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519030.1:c.1323+375_1323+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517332.1:n.1323+375_1323+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519031.1:c.1110+375_1110+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517333.1:n.1110+375_1110+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519032.1:c.1110+375_1110+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517334.1:n.1110+375_1110+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519033.1:c.3384+375_3384+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517335.1:n.3384+375_3384+376insAGGGGGGCGCCATGTACCGAGACT...
XR_930459.1:n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCTTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC
NM_001354263.1:c.3519+375_3519+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	NP_001341192.1:n.3519+375_3519+376insAGGGGGGCGCCATGTACCGAGACT...
XM_005266105.5:c.3531+375_3531+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_005266162.1:n.3531+375_3531+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519021.3:c.3549+375_3549+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517323.1:n.3549+375_3549+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519022.3:c.3546+375_3546+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517324.1:n.3546+375_3546+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519023.3:c.3528+375_3528+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517325.1:n.3528+375_3528+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519029.3:c.1971+375_1971+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517331.1:n.1971+375_1971+376insAGGGGGGCGCCATGTACCGAGACT...
XM_011519030.3:c.1323+375_1323+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_011517332.1:n.1323+375_1323+376insAGGGGGGCGCCATGTACCGAGACT...
XM_017015134.1:c.3525+375_3525+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_016870623.1:n.3525+375_3525+376insAGGGGGGCGCCATGTACCGAGACT...
XM_017015136.2:c.3441+375_3441+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_016870625.1:n.3441+375_3441+376insAGGGGGGCGCCATGTACCGAGACT...
XM_017015137.1:c.3426+375_3426+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_016870626.1:n.3426+375_3426+376insAGGGGGGCGCCATGTACCGAGACT...
XM_017015138.1:c.3426+375_3426+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_016870627.1:n.3426+375_3426+376insAGGGGGGCGCCATGTACCGAGACT...
XM_024447674.1:c.3369+375_3369+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_024303442.1:n.3369+375_3369+376insAGGGGGGCGCCATGTACCGAGACT...
XM_024447675.1:c.3303+375_3303+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_024303443.1:n.3303+375_3303+376insAGGGGGGCGCCATGTACCGAGACT...
XM_024447676.1:c.2664+375_2664+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_024303444.1:n.2664+375_2664+376insAGGGGGGCGCCATGTACCGAGACT...
XM_024447677.1:c.2664+375_2664+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_024303445.1:n.2664+375_2664+376insAGGGGGGCGCCATGTACCGAGACT...
XM_024447680.1:c.3282+375_3282+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	XP_024303448.1:n.3282+375_3282+376insAGGGGGGCGCCATGTACCGAGACT...
NM_024757.5:c.3540+375_3540+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA MANE Select	NP_079033.4:n.3540+375_3540+376insAGGGGGGCGCCATGTACCGAGACTGTA...
NM_001354263.2:c.3519+375_3519+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA	NP_001341192.1:n.3519+375_3519+376insAGGGGGGCGCCATGTACCGAGACT...