Canonical Allele Identifier: CA1130164413

Gene: EHMT1

Linked Data

• dbSNP Id: rs1955109431
• gnomAD v3: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAG
• gnomAD v4: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818514_137818515insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG , CM000671.2:g.137818514_137818515insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	GRCh38
NC_000009.11:g.140712966_140712967insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG , CM000671.1:g.140712966_140712967insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	GRCh37
NC_000009.10:g.139832787_139832788insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	NCBI36
NG_011776.1:g.204523_204524insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+376_3540+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG MANE Select	ENSP00000417980.1:n.3540+376_3540+377insCGGGGGCGCCATGTACCGAGA...
ENST00000636526.1:n.26+376_26+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG
ENST00000637161.1:c.3447+376_3447+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	ENSP00000490328.1:n.3447+376_3447+377insCGGGGGCGCCATGTACCGAGA...
ENST00000637261.1:c.4114+376_4114+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	ENSP00000490815.1:n.4114+376_4114+377insCGGGGGCGCCATGTACCGAGA...
ENST00000637748.1:n.521+376_521+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG
ENST00000637891.1:c.1614+376_1614+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	ENSP00000490907.1:n.1614+376_1614+377insCGGGGGCGCCATGTACCGAGA...
ENST00000460843.5:c.3540+376_3540+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	ENSP00000417980.1:n.3540+376_3540+377insCGGGGGCGCCATGTACCGAGA...
ENST00000462942.3:c.2397+376_2397+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	ENSP00000436107.1:n.2397+376_2397+377insCGGGGGCGCCATGTACCGAGA...
ENST00000475564.5:n.1264+376_1264+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG
ENST00000494249.5:n.893+376_893+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG
NM_024757.4:c.3540+376_3540+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	NP_079033.4:n.3540+376_3540+377insCGGGGGCGCCATGTACCGAGACTGTAG...
XM_005266105.3:c.3531+376_3531+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_005266162.1:n.3531+376_3531+377insCGGGGGCGCCATGTACCGAGACTG...
XM_005266110.1:c.3447+376_3447+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_005266167.1:n.3447+376_3447+377insCGGGGGCGCCATGTACCGAGACTG...
XM_006717288.2:c.3522+376_3522+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_006717351.1:n.3522+376_3522+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519021.1:c.3549+376_3549+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517323.1:n.3549+376_3549+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519022.1:c.3546+376_3546+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517324.1:n.3546+376_3546+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519023.1:c.3528+376_3528+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517325.1:n.3528+376_3528+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519024.1:c.3471+376_3471+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517326.1:n.3471+376_3471+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519025.1:c.3447+376_3447+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517327.1:n.3447+376_3447+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519026.1:c.3405+376_3405+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517328.1:n.3405+376_3405+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519029.1:c.1971+376_1971+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517331.1:n.1971+376_1971+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519030.1:c.1323+376_1323+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517332.1:n.1323+376_1323+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519031.1:c.1110+376_1110+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517333.1:n.1110+376_1110+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519032.1:c.1110+376_1110+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517334.1:n.1110+376_1110+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519033.1:c.3384+376_3384+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517335.1:n.3384+376_3384+377insCGGGGGCGCCATGTACCGAGACTG...
XR_930459.1:n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCGCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC
NM_001354263.1:c.3519+376_3519+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	NP_001341192.1:n.3519+376_3519+377insCGGGGGCGCCATGTACCGAGACTG...
XM_005266105.5:c.3531+376_3531+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_005266162.1:n.3531+376_3531+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519021.3:c.3549+376_3549+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517323.1:n.3549+376_3549+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519022.3:c.3546+376_3546+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517324.1:n.3546+376_3546+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519023.3:c.3528+376_3528+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517325.1:n.3528+376_3528+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519029.3:c.1971+376_1971+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517331.1:n.1971+376_1971+377insCGGGGGCGCCATGTACCGAGACTG...
XM_011519030.3:c.1323+376_1323+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_011517332.1:n.1323+376_1323+377insCGGGGGCGCCATGTACCGAGACTG...
XM_017015134.1:c.3525+376_3525+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_016870623.1:n.3525+376_3525+377insCGGGGGCGCCATGTACCGAGACTG...
XM_017015136.2:c.3441+376_3441+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_016870625.1:n.3441+376_3441+377insCGGGGGCGCCATGTACCGAGACTG...
XM_017015137.1:c.3426+376_3426+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_016870626.1:n.3426+376_3426+377insCGGGGGCGCCATGTACCGAGACTG...
XM_017015138.1:c.3426+376_3426+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_016870627.1:n.3426+376_3426+377insCGGGGGCGCCATGTACCGAGACTG...
XM_024447674.1:c.3369+376_3369+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_024303442.1:n.3369+376_3369+377insCGGGGGCGCCATGTACCGAGACTG...
XM_024447675.1:c.3303+376_3303+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_024303443.1:n.3303+376_3303+377insCGGGGGCGCCATGTACCGAGACTG...
XM_024447676.1:c.2664+376_2664+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_024303444.1:n.2664+376_2664+377insCGGGGGCGCCATGTACCGAGACTG...
XM_024447677.1:c.2664+376_2664+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_024303445.1:n.2664+376_2664+377insCGGGGGCGCCATGTACCGAGACTG...
XM_024447680.1:c.3282+376_3282+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	XP_024303448.1:n.3282+376_3282+377insCGGGGGCGCCATGTACCGAGACTG...
NM_024757.5:c.3540+376_3540+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG MANE Select	NP_079033.4:n.3540+376_3540+377insCGGGGGCGCCATGTACCGAGACTGTAG...
NM_001354263.2:c.3519+376_3519+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG	NP_001341192.1:n.3519+376_3519+377insCGGGGGCGCCATGTACCGAGACTG...