Canonical Allele Identifier: CA1130164380

Gene: EHMT1

Linked Data

• dbSNP Id: rs1955110010
• gnomAD v3: 9-137818480-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG-C
• gnomAD v4: 9-137818480-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818488_137818524del , CM000671.2:g.137818488_137818524del	GRCh38
NC_000009.11:g.140712940_140712976del , CM000671.1:g.140712940_140712976del	GRCh37
NC_000009.10:g.139832761_139832797del	NCBI36
NG_011776.1:g.204497_204533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+350_3540+386del MANE Select	ENSP00000417980.1:n.3540+350_3540+386del
ENST00000636526.1:n.26+350_26+386del
ENST00000637161.1:c.3447+350_3447+386del	ENSP00000490328.1:n.3447+350_3447+386del
ENST00000637261.1:c.4114+350_4114+386del	ENSP00000490815.1:n.4114+350_4114+386del
ENST00000637748.1:n.521+350_521+386del
ENST00000637891.1:c.1614+350_1614+386del	ENSP00000490907.1:n.1614+350_1614+386del
ENST00000460843.5:c.3540+350_3540+386del	ENSP00000417980.1:n.3540+350_3540+386del
ENST00000462942.3:c.2397+350_2397+386del	ENSP00000436107.1:n.2397+350_2397+386del
ENST00000475564.5:n.1264+350_1264+386del
ENST00000494249.5:n.893+350_893+386del
NM_024757.4:c.3540+350_3540+386del	NP_079033.4:n.3540+350_3540+386del
XM_005266105.3:c.3531+350_3531+386del	XP_005266162.1:n.3531+350_3531+386del
XM_005266110.1:c.3447+350_3447+386del	XP_005266167.1:n.3447+350_3447+386del
XM_006717288.2:c.3522+350_3522+386del	XP_006717351.1:n.3522+350_3522+386del
XM_011519021.1:c.3549+350_3549+386del	XP_011517323.1:n.3549+350_3549+386del
XM_011519022.1:c.3546+350_3546+386del	XP_011517324.1:n.3546+350_3546+386del
XM_011519023.1:c.3528+350_3528+386del	XP_011517325.1:n.3528+350_3528+386del
XM_011519024.1:c.3471+350_3471+386del	XP_011517326.1:n.3471+350_3471+386del
XM_011519025.1:c.3447+350_3447+386del	XP_011517327.1:n.3447+350_3447+386del
XM_011519026.1:c.3405+350_3405+386del	XP_011517328.1:n.3405+350_3405+386del
XM_011519029.1:c.1971+350_1971+386del	XP_011517331.1:n.1971+350_1971+386del
XM_011519030.1:c.1323+350_1323+386del	XP_011517332.1:n.1323+350_1323+386del
XM_011519031.1:c.1110+350_1110+386del	XP_011517333.1:n.1110+350_1110+386del
XM_011519032.1:c.1110+350_1110+386del	XP_011517334.1:n.1110+350_1110+386del
XM_011519033.1:c.3384+350_3384+386del	XP_011517335.1:n.3384+350_3384+386del
XR_930459.1:n.5297-3955_5297-3919del
NM_001354263.1:c.3519+350_3519+386del	NP_001341192.1:n.3519+350_3519+386del
XM_005266105.5:c.3531+350_3531+386del	XP_005266162.1:n.3531+350_3531+386del
XM_011519021.3:c.3549+350_3549+386del	XP_011517323.1:n.3549+350_3549+386del
XM_011519022.3:c.3546+350_3546+386del	XP_011517324.1:n.3546+350_3546+386del
XM_011519023.3:c.3528+350_3528+386del	XP_011517325.1:n.3528+350_3528+386del
XM_011519029.3:c.1971+350_1971+386del	XP_011517331.1:n.1971+350_1971+386del
XM_011519030.3:c.1323+350_1323+386del	XP_011517332.1:n.1323+350_1323+386del
XM_017015134.1:c.3525+350_3525+386del	XP_016870623.1:n.3525+350_3525+386del
XM_017015136.2:c.3441+350_3441+386del	XP_016870625.1:n.3441+350_3441+386del
XM_017015137.1:c.3426+350_3426+386del	XP_016870626.1:n.3426+350_3426+386del
XM_017015138.1:c.3426+350_3426+386del	XP_016870627.1:n.3426+350_3426+386del
XM_024447674.1:c.3369+350_3369+386del	XP_024303442.1:n.3369+350_3369+386del
XM_024447675.1:c.3303+350_3303+386del	XP_024303443.1:n.3303+350_3303+386del
XM_024447676.1:c.2664+350_2664+386del	XP_024303444.1:n.2664+350_2664+386del
XM_024447677.1:c.2664+350_2664+386del	XP_024303445.1:n.2664+350_2664+386del
XM_024447680.1:c.3282+350_3282+386del	XP_024303448.1:n.3282+350_3282+386del
NM_024757.5:c.3540+350_3540+386del MANE Select	NP_079033.4:n.3540+350_3540+386del
NM_001354263.2:c.3519+350_3519+386del	NP_001341192.1:n.3519+350_3519+386del