Canonical Allele Identifier: CA1884688563

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818475_137818512delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG , CM000671.2:g.137818475_137818512delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	GRCh38
NC_000009.11:g.140712927_140712964delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG , CM000671.1:g.140712927_140712964delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	GRCh37
NC_000009.10:g.139832748_139832785delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	NCBI36
NG_011776.1:g.204484_204521delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+337_3540+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG MANE Select	ENSP00000417980.1:n.3540+337_3540+374delinsAAGGACGGGCGCCGTGTA...
ENST00000636526.1:n.26+337_26+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG
ENST00000637161.1:c.3447+337_3447+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	ENSP00000490328.1:n.3447+337_3447+374delinsAAGGACGGGCGCCGTGTA...
ENST00000637261.1:c.4114+337_4114+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	ENSP00000490815.1:n.4114+337_4114+374delinsAAGGACGGGCGCCGTGTA...
ENST00000637748.1:n.521+337_521+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG
ENST00000637891.1:c.1614+337_1614+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	ENSP00000490907.1:n.1614+337_1614+374delinsAAGGACGGGCGCCGTGTA...
ENST00000460843.5:c.3540+337_3540+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	ENSP00000417980.1:n.3540+337_3540+374delinsAAGGACGGGCGCCGTGTA...
ENST00000462942.3:c.2397+337_2397+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	ENSP00000436107.1:n.2397+337_2397+374delinsAAGGACGGGCGCCGTGTA...
ENST00000475564.5:n.1264+337_1264+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG
ENST00000494249.5:n.893+337_893+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG
NM_024757.4:c.3540+337_3540+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	NP_079033.4:n.3540+337_3540+374delinsAAGGACGGGCGCCGTGTACCAAGA...
XM_005266105.3:c.3531+337_3531+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_005266162.1:n.3531+337_3531+374delinsAAGGACGGGCGCCGTGTACCA...
XM_005266110.1:c.3447+337_3447+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_005266167.1:n.3447+337_3447+374delinsAAGGACGGGCGCCGTGTACCA...
XM_006717288.2:c.3522+337_3522+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_006717351.1:n.3522+337_3522+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519021.1:c.3549+337_3549+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517323.1:n.3549+337_3549+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519022.1:c.3546+337_3546+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517324.1:n.3546+337_3546+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519023.1:c.3528+337_3528+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517325.1:n.3528+337_3528+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519024.1:c.3471+337_3471+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517326.1:n.3471+337_3471+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519025.1:c.3447+337_3447+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517327.1:n.3447+337_3447+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519026.1:c.3405+337_3405+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517328.1:n.3405+337_3405+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519029.1:c.1971+337_1971+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517331.1:n.1971+337_1971+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519030.1:c.1323+337_1323+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517332.1:n.1323+337_1323+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519031.1:c.1110+337_1110+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517333.1:n.1110+337_1110+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519032.1:c.1110+337_1110+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517334.1:n.1110+337_1110+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519033.1:c.3384+337_3384+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517335.1:n.3384+337_3384+374delinsAAGGACGGGCGCCGTGTACCA...
XR_930459.1:n.5297-3950_5297-3913delinsCAGCCTCTCTACAGTCTTGGTACACGGCGCCCGTCCTT
NM_001354263.1:c.3519+337_3519+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	NP_001341192.1:n.3519+337_3519+374delinsAAGGACGGGCGCCGTGTACCA...
XM_005266105.5:c.3531+337_3531+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_005266162.1:n.3531+337_3531+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519021.3:c.3549+337_3549+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517323.1:n.3549+337_3549+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519022.3:c.3546+337_3546+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517324.1:n.3546+337_3546+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519023.3:c.3528+337_3528+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517325.1:n.3528+337_3528+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519029.3:c.1971+337_1971+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517331.1:n.1971+337_1971+374delinsAAGGACGGGCGCCGTGTACCA...
XM_011519030.3:c.1323+337_1323+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_011517332.1:n.1323+337_1323+374delinsAAGGACGGGCGCCGTGTACCA...
XM_017015134.1:c.3525+337_3525+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_016870623.1:n.3525+337_3525+374delinsAAGGACGGGCGCCGTGTACCA...
XM_017015136.2:c.3441+337_3441+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_016870625.1:n.3441+337_3441+374delinsAAGGACGGGCGCCGTGTACCA...
XM_017015137.1:c.3426+337_3426+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_016870626.1:n.3426+337_3426+374delinsAAGGACGGGCGCCGTGTACCA...
XM_017015138.1:c.3426+337_3426+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_016870627.1:n.3426+337_3426+374delinsAAGGACGGGCGCCGTGTACCA...
XM_024447674.1:c.3369+337_3369+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_024303442.1:n.3369+337_3369+374delinsAAGGACGGGCGCCGTGTACCA...
XM_024447675.1:c.3303+337_3303+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_024303443.1:n.3303+337_3303+374delinsAAGGACGGGCGCCGTGTACCA...
XM_024447676.1:c.2664+337_2664+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_024303444.1:n.2664+337_2664+374delinsAAGGACGGGCGCCGTGTACCA...
XM_024447677.1:c.2664+337_2664+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_024303445.1:n.2664+337_2664+374delinsAAGGACGGGCGCCGTGTACCA...
XM_024447680.1:c.3282+337_3282+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	XP_024303448.1:n.3282+337_3282+374delinsAAGGACGGGCGCCGTGTACCA...
NM_024757.5:c.3540+337_3540+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG MANE Select	NP_079033.4:n.3540+337_3540+374delinsAAGGACGGGCGCCGTGTACCAAGA...
NM_001354263.2:c.3519+337_3519+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG	NP_001341192.1:n.3519+337_3519+374delinsAAGGACGGGCGCCGTGTACCA...