Canonical Allele Identifier: CA861206501

Gene: EHMT1

Linked Data

• dbSNP Id: rs1346666311
• gnomAD v3: 9-137818495-AAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG-A
• gnomAD v4: 9-137818495-AAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG-A
• MyVariant Identifiers: chr9:g.140712948_140712984del (hg19) ; chr9:g.137818496_137818532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818511_137818547del , CM000671.2:g.137818511_137818547del	GRCh38
NC_000009.11:g.140712963_140712999del , CM000671.1:g.140712963_140712999del	GRCh37
NC_000009.10:g.139832784_139832820del	NCBI36
NG_011776.1:g.204520_204556del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+373_3540+409del MANE Select	ENSP00000417980.1:n.3540+373_3540+409del
ENST00000636526.1:n.26+373_26+409del
ENST00000637161.1:c.3447+373_3447+409del	ENSP00000490328.1:n.3447+373_3447+409del
ENST00000637261.1:c.4114+373_4114+409del	ENSP00000490815.1:n.4114+373_4114+409del
ENST00000637748.1:n.521+373_521+409del
ENST00000637891.1:c.1614+373_1614+409del	ENSP00000490907.1:n.1614+373_1614+409del
ENST00000460843.5:c.3540+373_3540+409del	ENSP00000417980.1:n.3540+373_3540+409del
ENST00000462942.3:c.2397+373_2397+409del	ENSP00000436107.1:n.2397+373_2397+409del
ENST00000475564.5:n.1264+373_1264+409del
ENST00000494249.5:n.893+373_893+409del
NM_024757.4:c.3540+373_3540+409del	NP_079033.4:n.3540+373_3540+409del
XM_005266105.3:c.3531+373_3531+409del	XP_005266162.1:n.3531+373_3531+409del
XM_005266110.1:c.3447+373_3447+409del	XP_005266167.1:n.3447+373_3447+409del
XM_006717288.2:c.3522+373_3522+409del	XP_006717351.1:n.3522+373_3522+409del
XM_011519021.1:c.3549+373_3549+409del	XP_011517323.1:n.3549+373_3549+409del
XM_011519022.1:c.3546+373_3546+409del	XP_011517324.1:n.3546+373_3546+409del
XM_011519023.1:c.3528+373_3528+409del	XP_011517325.1:n.3528+373_3528+409del
XM_011519024.1:c.3471+373_3471+409del	XP_011517326.1:n.3471+373_3471+409del
XM_011519025.1:c.3447+373_3447+409del	XP_011517327.1:n.3447+373_3447+409del
XM_011519026.1:c.3405+373_3405+409del	XP_011517328.1:n.3405+373_3405+409del
XM_011519029.1:c.1971+373_1971+409del	XP_011517331.1:n.1971+373_1971+409del
XM_011519030.1:c.1323+373_1323+409del	XP_011517332.1:n.1323+373_1323+409del
XM_011519031.1:c.1110+373_1110+409del	XP_011517333.1:n.1110+373_1110+409del
XM_011519032.1:c.1110+373_1110+409del	XP_011517334.1:n.1110+373_1110+409del
XM_011519033.1:c.3384+373_3384+409del	XP_011517335.1:n.3384+373_3384+409del
XR_930459.1:n.5297-3970_5297-3934del
NM_001354263.1:c.3519+373_3519+409del	NP_001341192.1:n.3519+373_3519+409del
XM_005266105.5:c.3531+373_3531+409del	XP_005266162.1:n.3531+373_3531+409del
XM_011519021.3:c.3549+373_3549+409del	XP_011517323.1:n.3549+373_3549+409del
XM_011519022.3:c.3546+373_3546+409del	XP_011517324.1:n.3546+373_3546+409del
XM_011519023.3:c.3528+373_3528+409del	XP_011517325.1:n.3528+373_3528+409del
XM_011519029.3:c.1971+373_1971+409del	XP_011517331.1:n.1971+373_1971+409del
XM_011519030.3:c.1323+373_1323+409del	XP_011517332.1:n.1323+373_1323+409del
XM_017015134.1:c.3525+373_3525+409del	XP_016870623.1:n.3525+373_3525+409del
XM_017015136.2:c.3441+373_3441+409del	XP_016870625.1:n.3441+373_3441+409del
XM_017015137.1:c.3426+373_3426+409del	XP_016870626.1:n.3426+373_3426+409del
XM_017015138.1:c.3426+373_3426+409del	XP_016870627.1:n.3426+373_3426+409del
XM_024447674.1:c.3369+373_3369+409del	XP_024303442.1:n.3369+373_3369+409del
XM_024447675.1:c.3303+373_3303+409del	XP_024303443.1:n.3303+373_3303+409del
XM_024447676.1:c.2664+373_2664+409del	XP_024303444.1:n.2664+373_2664+409del
XM_024447677.1:c.2664+373_2664+409del	XP_024303445.1:n.2664+373_2664+409del
XM_024447680.1:c.3282+373_3282+409del	XP_024303448.1:n.3282+373_3282+409del
NM_024757.5:c.3540+373_3540+409del MANE Select	NP_079033.4:n.3540+373_3540+409del
NM_001354263.2:c.3519+373_3519+409del	NP_001341192.1:n.3519+373_3519+409del