Canonical Allele Identifier: CA2692895004

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137818253-GGCTTGCTATAGACCTGCTGAGTGCCGCATTTGGAGCTGGCCTTGGTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818254_137818301del , CM000671.2:g.137818254_137818301del	GRCh38
NC_000009.11:g.140712706_140712753del , CM000671.1:g.140712706_140712753del	GRCh37
NC_000009.10:g.139832527_139832574del	NCBI36
NG_011776.1:g.204263_204310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+116_3540+163del MANE Select	ENSP00000417980.1:n.3540+116_3540+163del
ENST00000636526.1:n.26+116_26+163del
ENST00000637161.1:c.3447+116_3447+163del	ENSP00000490328.1:n.3447+116_3447+163del
ENST00000637261.1:c.4114+116_4114+163del	ENSP00000490815.1:n.4114+116_4114+163del
ENST00000637748.1:n.521+116_521+163del
ENST00000637891.1:c.1614+116_1614+163del	ENSP00000490907.1:n.1614+116_1614+163del
ENST00000460843.5:c.3540+116_3540+163del	ENSP00000417980.1:n.3540+116_3540+163del
ENST00000462942.3:c.2397+116_2397+163del	ENSP00000436107.1:n.2397+116_2397+163del
ENST00000475564.5:n.1264+116_1264+163del
ENST00000494249.5:n.893+116_893+163del
NM_024757.4:c.3540+116_3540+163del	NP_079033.4:n.3540+116_3540+163del
XM_005266105.3:c.3531+116_3531+163del	XP_005266162.1:n.3531+116_3531+163del
XM_005266110.1:c.3447+116_3447+163del	XP_005266167.1:n.3447+116_3447+163del
XM_006717288.2:c.3522+116_3522+163del	XP_006717351.1:n.3522+116_3522+163del
XM_011519021.1:c.3549+116_3549+163del	XP_011517323.1:n.3549+116_3549+163del
XM_011519022.1:c.3546+116_3546+163del	XP_011517324.1:n.3546+116_3546+163del
XM_011519023.1:c.3528+116_3528+163del	XP_011517325.1:n.3528+116_3528+163del
XM_011519024.1:c.3471+116_3471+163del	XP_011517326.1:n.3471+116_3471+163del
XM_011519025.1:c.3447+116_3447+163del	XP_011517327.1:n.3447+116_3447+163del
XM_011519026.1:c.3405+116_3405+163del	XP_011517328.1:n.3405+116_3405+163del
XM_011519029.1:c.1971+116_1971+163del	XP_011517331.1:n.1971+116_1971+163del
XM_011519030.1:c.1323+116_1323+163del	XP_011517332.1:n.1323+116_1323+163del
XM_011519031.1:c.1110+116_1110+163del	XP_011517333.1:n.1110+116_1110+163del
XM_011519032.1:c.1110+116_1110+163del	XP_011517334.1:n.1110+116_1110+163del
XM_011519033.1:c.3384+116_3384+163del	XP_011517335.1:n.3384+116_3384+163del
XR_930459.1:n.5297-3739_5297-3692del
NM_001354263.1:c.3519+116_3519+163del	NP_001341192.1:n.3519+116_3519+163del
XM_005266105.5:c.3531+116_3531+163del	XP_005266162.1:n.3531+116_3531+163del
XM_011519021.3:c.3549+116_3549+163del	XP_011517323.1:n.3549+116_3549+163del
XM_011519022.3:c.3546+116_3546+163del	XP_011517324.1:n.3546+116_3546+163del
XM_011519023.3:c.3528+116_3528+163del	XP_011517325.1:n.3528+116_3528+163del
XM_011519029.3:c.1971+116_1971+163del	XP_011517331.1:n.1971+116_1971+163del
XM_011519030.3:c.1323+116_1323+163del	XP_011517332.1:n.1323+116_1323+163del
XM_017015134.1:c.3525+116_3525+163del	XP_016870623.1:n.3525+116_3525+163del
XM_017015136.2:c.3441+116_3441+163del	XP_016870625.1:n.3441+116_3441+163del
XM_017015137.1:c.3426+116_3426+163del	XP_016870626.1:n.3426+116_3426+163del
XM_017015138.1:c.3426+116_3426+163del	XP_016870627.1:n.3426+116_3426+163del
XM_024447674.1:c.3369+116_3369+163del	XP_024303442.1:n.3369+116_3369+163del
XM_024447675.1:c.3303+116_3303+163del	XP_024303443.1:n.3303+116_3303+163del
XM_024447676.1:c.2664+116_2664+163del	XP_024303444.1:n.2664+116_2664+163del
XM_024447677.1:c.2664+116_2664+163del	XP_024303445.1:n.2664+116_2664+163del
XM_024447680.1:c.3282+116_3282+163del	XP_024303448.1:n.3282+116_3282+163del
NM_024757.5:c.3540+116_3540+163del MANE Select	NP_079033.4:n.3540+116_3540+163del
NM_001354263.2:c.3519+116_3519+163del	NP_001341192.1:n.3519+116_3519+163del