Canonical Allele Identifier: CA1130164421

Gene: EHMT1

Linked Data

• gnomAD v3: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAAAGAGGCCGATTGAG
• gnomAD v4: 9-137818480-C-CGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAAAGAGGCCGATTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137818540_137818541insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA , CM000671.2:g.137818540_137818541insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	GRCh38
NC_000009.11:g.140712992_140712993insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA , CM000671.1:g.140712992_140712993insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	GRCh37
NC_000009.10:g.139832813_139832814insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	NCBI36
NG_011776.1:g.204549_204550insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3540+402_3540+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA MANE Select	ENSP00000417980.1:n.3540+402_3540+403insAAGAGGCCGATTGAGGGGCGC...
ENST00000636526.1:n.26+402_26+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA
ENST00000637161.1:c.3447+402_3447+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	ENSP00000490328.1:n.3447+402_3447+403insAAGAGGCCGATTGAGGGGCGC...
ENST00000637261.1:c.4114+402_4114+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	ENSP00000490815.1:n.4114+402_4114+403insAAGAGGCCGATTGAGGGGCGC...
ENST00000637748.1:n.521+402_521+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA
ENST00000637891.1:c.1614+402_1614+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	ENSP00000490907.1:n.1614+402_1614+403insAAGAGGCCGATTGAGGGGCGC...
ENST00000460843.5:c.3540+402_3540+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	ENSP00000417980.1:n.3540+402_3540+403insAAGAGGCCGATTGAGGGGCGC...
ENST00000462942.3:c.2397+402_2397+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	ENSP00000436107.1:n.2397+402_2397+403insAAGAGGCCGATTGAGGGGCGC...
ENST00000475564.5:n.1264+402_1264+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA
ENST00000494249.5:n.893+402_893+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA
NM_024757.4:c.3540+402_3540+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	NP_079033.4:n.3540+402_3540+403insAAGAGGCCGATTGAGGGGCGCCGTGTA...
XM_005266105.3:c.3531+402_3531+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_005266162.1:n.3531+402_3531+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_005266110.1:c.3447+402_3447+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_005266167.1:n.3447+402_3447+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_006717288.2:c.3522+402_3522+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_006717351.1:n.3522+402_3522+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519021.1:c.3549+402_3549+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517323.1:n.3549+402_3549+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519022.1:c.3546+402_3546+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517324.1:n.3546+402_3546+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519023.1:c.3528+402_3528+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517325.1:n.3528+402_3528+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519024.1:c.3471+402_3471+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517326.1:n.3471+402_3471+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519025.1:c.3447+402_3447+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517327.1:n.3447+402_3447+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519026.1:c.3405+402_3405+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517328.1:n.3405+402_3405+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519029.1:c.1971+402_1971+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517331.1:n.1971+402_1971+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519030.1:c.1323+402_1323+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517332.1:n.1323+402_1323+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519031.1:c.1110+402_1110+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517333.1:n.1110+402_1110+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519032.1:c.1110+402_1110+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517334.1:n.1110+402_1110+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519033.1:c.3384+402_3384+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517335.1:n.3384+402_3384+403insAAGAGGCCGATTGAGGGGCGCCGT...
XR_930459.1:n.5297-3919_5297-3918insCTCAATCGGCCTCTTTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC
NM_001354263.1:c.3519+402_3519+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	NP_001341192.1:n.3519+402_3519+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_005266105.5:c.3531+402_3531+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_005266162.1:n.3531+402_3531+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519021.3:c.3549+402_3549+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517323.1:n.3549+402_3549+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519022.3:c.3546+402_3546+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517324.1:n.3546+402_3546+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519023.3:c.3528+402_3528+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517325.1:n.3528+402_3528+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519029.3:c.1971+402_1971+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517331.1:n.1971+402_1971+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_011519030.3:c.1323+402_1323+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_011517332.1:n.1323+402_1323+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_017015134.1:c.3525+402_3525+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_016870623.1:n.3525+402_3525+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_017015136.2:c.3441+402_3441+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_016870625.1:n.3441+402_3441+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_017015137.1:c.3426+402_3426+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_016870626.1:n.3426+402_3426+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_017015138.1:c.3426+402_3426+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_016870627.1:n.3426+402_3426+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_024447674.1:c.3369+402_3369+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_024303442.1:n.3369+402_3369+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_024447675.1:c.3303+402_3303+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_024303443.1:n.3303+402_3303+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_024447676.1:c.2664+402_2664+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_024303444.1:n.2664+402_2664+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_024447677.1:c.2664+402_2664+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_024303445.1:n.2664+402_2664+403insAAGAGGCCGATTGAGGGGCGCCGT...
XM_024447680.1:c.3282+402_3282+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	XP_024303448.1:n.3282+402_3282+403insAAGAGGCCGATTGAGGGGCGCCGT...
NM_024757.5:c.3540+402_3540+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA MANE Select	NP_079033.4:n.3540+402_3540+403insAAGAGGCCGATTGAGGGGCGCCGTGTA...
NM_001354263.2:c.3519+402_3519+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA	NP_001341192.1:n.3519+402_3519+403insAAGAGGCCGATTGAGGGGCGCCGT...