Canonical Allele Identifier: CA591240805

Gene: EHMT1

Linked Data

• dbSNP Id: rs1190453314
• gnomAD v2: 9-140712883-ATCT-A
• gnomAD v3: 9-137818431-ATCT-A
• gnomAD v4: 9-137818431-ATCT-A
• MyVariant Identifiers: chr9:g.140712884_140712886del (hg19) ; chr9:g.137818432_137818434del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818433_137818435del , CM000671.2:g.137818433_137818435del	GRCh38
NC_000009.11:g.140712885_140712887del , CM000671.1:g.140712885_140712887del	GRCh37
NC_000009.10:g.139832706_139832708del	NCBI36
NG_011776.1:g.204442_204444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+295_3540+297del MANE Select	ENSP00000417980.1:n.3540+295_3540+297del
ENST00000636526.1:n.26+295_26+297del
ENST00000637161.1:c.3447+295_3447+297del	ENSP00000490328.1:n.3447+295_3447+297del
ENST00000637261.1:c.4114+295_4114+297del	ENSP00000490815.1:n.4114+295_4114+297del
ENST00000637748.1:n.521+295_521+297del
ENST00000637891.1:c.1614+295_1614+297del	ENSP00000490907.1:n.1614+295_1614+297del
ENST00000460843.5:c.3540+295_3540+297del	ENSP00000417980.1:n.3540+295_3540+297del
ENST00000462942.3:c.2397+295_2397+297del	ENSP00000436107.1:n.2397+295_2397+297del
ENST00000475564.5:n.1264+295_1264+297del
ENST00000494249.5:n.893+295_893+297del
NM_024757.4:c.3540+295_3540+297del	NP_079033.4:n.3540+295_3540+297del
XM_005266105.3:c.3531+295_3531+297del	XP_005266162.1:n.3531+295_3531+297del
XM_005266110.1:c.3447+295_3447+297del	XP_005266167.1:n.3447+295_3447+297del
XM_006717288.2:c.3522+295_3522+297del	XP_006717351.1:n.3522+295_3522+297del
XM_011519021.1:c.3549+295_3549+297del	XP_011517323.1:n.3549+295_3549+297del
XM_011519022.1:c.3546+295_3546+297del	XP_011517324.1:n.3546+295_3546+297del
XM_011519023.1:c.3528+295_3528+297del	XP_011517325.1:n.3528+295_3528+297del
XM_011519024.1:c.3471+295_3471+297del	XP_011517326.1:n.3471+295_3471+297del
XM_011519025.1:c.3447+295_3447+297del	XP_011517327.1:n.3447+295_3447+297del
XM_011519026.1:c.3405+295_3405+297del	XP_011517328.1:n.3405+295_3405+297del
XM_011519029.1:c.1971+295_1971+297del	XP_011517331.1:n.1971+295_1971+297del
XM_011519030.1:c.1323+295_1323+297del	XP_011517332.1:n.1323+295_1323+297del
XM_011519031.1:c.1110+295_1110+297del	XP_011517333.1:n.1110+295_1110+297del
XM_011519032.1:c.1110+295_1110+297del	XP_011517334.1:n.1110+295_1110+297del
XM_011519033.1:c.3384+295_3384+297del	XP_011517335.1:n.3384+295_3384+297del
XR_930459.1:n.5297-3872_5297-3870del
NM_001354263.1:c.3519+295_3519+297del	NP_001341192.1:n.3519+295_3519+297del
XM_005266105.5:c.3531+295_3531+297del	XP_005266162.1:n.3531+295_3531+297del
XM_011519021.3:c.3549+295_3549+297del	XP_011517323.1:n.3549+295_3549+297del
XM_011519022.3:c.3546+295_3546+297del	XP_011517324.1:n.3546+295_3546+297del
XM_011519023.3:c.3528+295_3528+297del	XP_011517325.1:n.3528+295_3528+297del
XM_011519029.3:c.1971+295_1971+297del	XP_011517331.1:n.1971+295_1971+297del
XM_011519030.3:c.1323+295_1323+297del	XP_011517332.1:n.1323+295_1323+297del
XM_017015134.1:c.3525+295_3525+297del	XP_016870623.1:n.3525+295_3525+297del
XM_017015136.2:c.3441+295_3441+297del	XP_016870625.1:n.3441+295_3441+297del
XM_017015137.1:c.3426+295_3426+297del	XP_016870626.1:n.3426+295_3426+297del
XM_017015138.1:c.3426+295_3426+297del	XP_016870627.1:n.3426+295_3426+297del
XM_024447674.1:c.3369+295_3369+297del	XP_024303442.1:n.3369+295_3369+297del
XM_024447675.1:c.3303+295_3303+297del	XP_024303443.1:n.3303+295_3303+297del
XM_024447676.1:c.2664+295_2664+297del	XP_024303444.1:n.2664+295_2664+297del
XM_024447677.1:c.2664+295_2664+297del	XP_024303445.1:n.2664+295_2664+297del
XM_024447680.1:c.3282+295_3282+297del	XP_024303448.1:n.3282+295_3282+297del
NM_024757.5:c.3540+295_3540+297del MANE Select	NP_079033.4:n.3540+295_3540+297del
NM_001354263.2:c.3519+295_3519+297del	NP_001341192.1:n.3519+295_3519+297del