Canonical Allele Identifier: CA2692894940

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137818208-G-GCCCTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818208_137818209insCCCTAC , CM000671.2:g.137818208_137818209insCCCTAC	GRCh38
NC_000009.11:g.140712660_140712661insCCCTAC , CM000671.1:g.140712660_140712661insCCCTAC	GRCh37
NC_000009.10:g.139832481_139832482insCCCTAC	NCBI36
NG_011776.1:g.204217_204218insCCCTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+70_3540+71insCCCTAC MANE Select	ENSP00000417980.1:n.3540+70_3540+71insCCCTAC
ENST00000636526.1:n.26+70_26+71insCCCTAC
ENST00000637161.1:c.3447+70_3447+71insCCCTAC	ENSP00000490328.1:n.3447+70_3447+71insCCCTAC
ENST00000637261.1:c.4114+70_4114+71insCCCTAC	ENSP00000490815.1:n.4114+70_4114+71insCCCTAC
ENST00000637748.1:n.521+70_521+71insCCCTAC
ENST00000637891.1:c.1614+70_1614+71insCCCTAC	ENSP00000490907.1:n.1614+70_1614+71insCCCTAC
ENST00000460843.5:c.3540+70_3540+71insCCCTAC	ENSP00000417980.1:n.3540+70_3540+71insCCCTAC
ENST00000462942.3:c.2397+70_2397+71insCCCTAC	ENSP00000436107.1:n.2397+70_2397+71insCCCTAC
ENST00000475564.5:n.1264+70_1264+71insCCCTAC
ENST00000494249.5:n.893+70_893+71insCCCTAC
NM_024757.4:c.3540+70_3540+71insCCCTAC	NP_079033.4:n.3540+70_3540+71insCCCTAC
XM_005266105.3:c.3531+70_3531+71insCCCTAC	XP_005266162.1:n.3531+70_3531+71insCCCTAC
XM_005266110.1:c.3447+70_3447+71insCCCTAC	XP_005266167.1:n.3447+70_3447+71insCCCTAC
XM_006717288.2:c.3522+70_3522+71insCCCTAC	XP_006717351.1:n.3522+70_3522+71insCCCTAC
XM_011519021.1:c.3549+70_3549+71insCCCTAC	XP_011517323.1:n.3549+70_3549+71insCCCTAC
XM_011519022.1:c.3546+70_3546+71insCCCTAC	XP_011517324.1:n.3546+70_3546+71insCCCTAC
XM_011519023.1:c.3528+70_3528+71insCCCTAC	XP_011517325.1:n.3528+70_3528+71insCCCTAC
XM_011519024.1:c.3471+70_3471+71insCCCTAC	XP_011517326.1:n.3471+70_3471+71insCCCTAC
XM_011519025.1:c.3447+70_3447+71insCCCTAC	XP_011517327.1:n.3447+70_3447+71insCCCTAC
XM_011519026.1:c.3405+70_3405+71insCCCTAC	XP_011517328.1:n.3405+70_3405+71insCCCTAC
XM_011519029.1:c.1971+70_1971+71insCCCTAC	XP_011517331.1:n.1971+70_1971+71insCCCTAC
XM_011519030.1:c.1323+70_1323+71insCCCTAC	XP_011517332.1:n.1323+70_1323+71insCCCTAC
XM_011519031.1:c.1110+70_1110+71insCCCTAC	XP_011517333.1:n.1110+70_1110+71insCCCTAC
XM_011519032.1:c.1110+70_1110+71insCCCTAC	XP_011517334.1:n.1110+70_1110+71insCCCTAC
XM_011519033.1:c.3384+70_3384+71insCCCTAC	XP_011517335.1:n.3384+70_3384+71insCCCTAC
XR_930459.1:n.5297-3647_5297-3646insGTAGGG
NM_001354263.1:c.3519+70_3519+71insCCCTAC	NP_001341192.1:n.3519+70_3519+71insCCCTAC
XM_005266105.5:c.3531+70_3531+71insCCCTAC	XP_005266162.1:n.3531+70_3531+71insCCCTAC
XM_011519021.3:c.3549+70_3549+71insCCCTAC	XP_011517323.1:n.3549+70_3549+71insCCCTAC
XM_011519022.3:c.3546+70_3546+71insCCCTAC	XP_011517324.1:n.3546+70_3546+71insCCCTAC
XM_011519023.3:c.3528+70_3528+71insCCCTAC	XP_011517325.1:n.3528+70_3528+71insCCCTAC
XM_011519029.3:c.1971+70_1971+71insCCCTAC	XP_011517331.1:n.1971+70_1971+71insCCCTAC
XM_011519030.3:c.1323+70_1323+71insCCCTAC	XP_011517332.1:n.1323+70_1323+71insCCCTAC
XM_017015134.1:c.3525+70_3525+71insCCCTAC	XP_016870623.1:n.3525+70_3525+71insCCCTAC
XM_017015136.2:c.3441+70_3441+71insCCCTAC	XP_016870625.1:n.3441+70_3441+71insCCCTAC
XM_017015137.1:c.3426+70_3426+71insCCCTAC	XP_016870626.1:n.3426+70_3426+71insCCCTAC
XM_017015138.1:c.3426+70_3426+71insCCCTAC	XP_016870627.1:n.3426+70_3426+71insCCCTAC
XM_024447674.1:c.3369+70_3369+71insCCCTAC	XP_024303442.1:n.3369+70_3369+71insCCCTAC
XM_024447675.1:c.3303+70_3303+71insCCCTAC	XP_024303443.1:n.3303+70_3303+71insCCCTAC
XM_024447676.1:c.2664+70_2664+71insCCCTAC	XP_024303444.1:n.2664+70_2664+71insCCCTAC
XM_024447677.1:c.2664+70_2664+71insCCCTAC	XP_024303445.1:n.2664+70_2664+71insCCCTAC
XM_024447680.1:c.3282+70_3282+71insCCCTAC	XP_024303448.1:n.3282+70_3282+71insCCCTAC
NM_024757.5:c.3540+70_3540+71insCCCTAC MANE Select	NP_079033.4:n.3540+70_3540+71insCCCTAC
NM_001354263.2:c.3519+70_3519+71insCCCTAC	NP_001341192.1:n.3519+70_3519+71insCCCTAC