Canonical Allele Identifier: CA1130164449

Gene: EHMT1

Linked Data

• dbSNP Id: rs1955114018
• gnomAD v3: 9-137818495-A-AAGACTGTAGAGAGGCTGTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG
• gnomAD v4: 9-137818495-A-AAGACTGTAGAGAGGCTGTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818512_137818513insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG , CM000671.2:g.137818512_137818513insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	GRCh38
NC_000009.11:g.140712964_140712965insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG , CM000671.1:g.140712964_140712965insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	GRCh37
NC_000009.10:g.139832785_139832786insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	NCBI36
NG_011776.1:g.204521_204522insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG MANE Select	ENSP00000417980.1:n.3540+374_3540+375insTGGGGGGGCGCCATGTACCGA...
ENST00000636526.1:n.26+374_26+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG
ENST00000637161.1:c.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	ENSP00000490328.1:n.3447+374_3447+375insTGGGGGGGCGCCATGTACCGA...
ENST00000637261.1:c.4114+374_4114+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	ENSP00000490815.1:n.4114+374_4114+375insTGGGGGGGCGCCATGTACCGA...
ENST00000637748.1:n.521+374_521+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG
ENST00000637891.1:c.1614+374_1614+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	ENSP00000490907.1:n.1614+374_1614+375insTGGGGGGGCGCCATGTACCGA...
ENST00000460843.5:c.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	ENSP00000417980.1:n.3540+374_3540+375insTGGGGGGGCGCCATGTACCGA...
ENST00000462942.3:c.2397+374_2397+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	ENSP00000436107.1:n.2397+374_2397+375insTGGGGGGGCGCCATGTACCGA...
ENST00000475564.5:n.1264+374_1264+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG
ENST00000494249.5:n.893+374_893+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG
NM_024757.4:c.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	NP_079033.4:n.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGT...
XM_005266105.3:c.3531+374_3531+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_005266162.1:n.3531+374_3531+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_005266110.1:c.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_005266167.1:n.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_006717288.2:c.3522+374_3522+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_006717351.1:n.3522+374_3522+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519021.1:c.3549+374_3549+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517323.1:n.3549+374_3549+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519022.1:c.3546+374_3546+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517324.1:n.3546+374_3546+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519023.1:c.3528+374_3528+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517325.1:n.3528+374_3528+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519024.1:c.3471+374_3471+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517326.1:n.3471+374_3471+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519025.1:c.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517327.1:n.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519026.1:c.3405+374_3405+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517328.1:n.3405+374_3405+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519029.1:c.1971+374_1971+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517331.1:n.1971+374_1971+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519030.1:c.1323+374_1323+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517332.1:n.1323+374_1323+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519031.1:c.1110+374_1110+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517333.1:n.1110+374_1110+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519032.1:c.1110+374_1110+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517334.1:n.1110+374_1110+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519033.1:c.3384+374_3384+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517335.1:n.3384+374_3384+375insTGGGGGGGCGCCATGTACCGAGAC...
XR_930459.1:n.5297-3934_5297-3933insCGGTACACGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCACAGCCTCTCTACAGTCT
NM_001354263.1:c.3519+374_3519+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	NP_001341192.1:n.3519+374_3519+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_005266105.5:c.3531+374_3531+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_005266162.1:n.3531+374_3531+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519021.3:c.3549+374_3549+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517323.1:n.3549+374_3549+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519022.3:c.3546+374_3546+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517324.1:n.3546+374_3546+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519023.3:c.3528+374_3528+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517325.1:n.3528+374_3528+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519029.3:c.1971+374_1971+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517331.1:n.1971+374_1971+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_011519030.3:c.1323+374_1323+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_011517332.1:n.1323+374_1323+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_017015134.1:c.3525+374_3525+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_016870623.1:n.3525+374_3525+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_017015136.2:c.3441+374_3441+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_016870625.1:n.3441+374_3441+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_017015137.1:c.3426+374_3426+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_016870626.1:n.3426+374_3426+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_017015138.1:c.3426+374_3426+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_016870627.1:n.3426+374_3426+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_024447674.1:c.3369+374_3369+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_024303442.1:n.3369+374_3369+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_024447675.1:c.3303+374_3303+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_024303443.1:n.3303+374_3303+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_024447676.1:c.2664+374_2664+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_024303444.1:n.2664+374_2664+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_024447677.1:c.2664+374_2664+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_024303445.1:n.2664+374_2664+375insTGGGGGGGCGCCATGTACCGAGAC...
XM_024447680.1:c.3282+374_3282+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	XP_024303448.1:n.3282+374_3282+375insTGGGGGGGCGCCATGTACCGAGAC...
NM_024757.5:c.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG MANE Select	NP_079033.4:n.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGT...
NM_001354263.2:c.3519+374_3519+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG	NP_001341192.1:n.3519+374_3519+375insTGGGGGGGCGCCATGTACCGAGAC...