Canonical Allele Identifier: CA918580571

Gene: EHMT1

Linked Data

• dbSNP Id: rs1564703230
• gnomAD v3: 9-137757545-CTG-C
• gnomAD v4: 9-137757545-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757547_137757548del , CM000671.2:g.137757547_137757548del	GRCh38
NC_000009.11:g.140651999_140652000del , CM000671.1:g.140651999_140652000del	GRCh37
NC_000009.10:g.139771820_139771821del	NCBI36
NG_011776.1:g.143556_143557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1370-333_1370-332del MANE Select	ENSP00000417980.1:n.1370-333_1370-332del
ENST00000629335.2:c.1370-333_1370-332del	ENSP00000490056.1:n.1370-333_1370-332del
ENST00000636027.1:c.1256-333_1256-332del	ENSP00000489961.1:n.1256-333_1256-332del
ENST00000637161.1:c.1277-333_1277-332del	ENSP00000490328.1:n.1277-333_1277-332del
ENST00000637261.1:c.1410-333_1410-332del	ENSP00000490815.1:n.1410-333_1410-332del
ENST00000637977.1:c.1315-333_1315-332del
ENST00000638071.1:c.997-333_997-332del
ENST00000640639.1:c.539-333_539-332del	ENSP00000491823.1:n.539-333_539-332del
ENST00000371394.6:c.*1105-333_*1105-332del	ENSP00000485945.1:n.*1105-333_*1105-332del
ENST00000460843.5:c.1370-333_1370-332del	ENSP00000417980.1:n.1370-333_1370-332del
ENST00000462484.5:c.1370-333_1370-332del	ENSP00000417328.1:n.1370-333_1370-332del
ENST00000462942.3:c.227-333_227-332del	ENSP00000436107.1:n.227-333_227-332del
ENST00000465566.2:c.62-333_62-332del	ENSP00000486261.1:n.62-333_62-332del
ENST00000626066.2:c.1273-333_1273-332del
ENST00000629808.2:c.463-333_463-332del
NM_001145527.1:c.1370-333_1370-332del	NP_001138999.1:n.1370-333_1370-332del
NM_024757.4:c.1370-333_1370-332del	NP_079033.4:n.1370-333_1370-332del
XM_005266105.3:c.1361-333_1361-332del	XP_005266162.1:n.1361-333_1361-332del
XM_005266110.1:c.1277-333_1277-332del	XP_005266167.1:n.1277-333_1277-332del
XM_006717288.2:c.1352-333_1352-332del	XP_006717351.1:n.1352-333_1352-332del
XM_011519021.1:c.1379-333_1379-332del	XP_011517323.1:n.1379-333_1379-332del
XM_011519022.1:c.1376-333_1376-332del	XP_011517324.1:n.1376-333_1376-332del
XM_011519023.1:c.1358-333_1358-332del	XP_011517325.1:n.1358-333_1358-332del
XM_011519024.1:c.1301-333_1301-332del	XP_011517326.1:n.1301-333_1301-332del
XM_011519025.1:c.1277-333_1277-332del	XP_011517327.1:n.1277-333_1277-332del
XM_011519026.1:c.1379-333_1379-332del	XP_011517328.1:n.1379-333_1379-332del
XM_011519027.1:c.1379-333_1379-332del	XP_011517329.1:n.1379-333_1379-332del
XM_011519028.1:c.1379-333_1379-332del	XP_011517330.1:n.1379-333_1379-332del
XM_011519033.1:c.1358-333_1358-332del	XP_011517335.1:n.1358-333_1358-332del
NM_001354259.1:c.1277-333_1277-332del	NP_001341188.1:n.1277-333_1277-332del
NM_001354263.1:c.1349-333_1349-332del	NP_001341192.1:n.1349-333_1349-332del
NM_001354611.1:c.1370-333_1370-332del	NP_001341540.1:n.1370-333_1370-332del
NM_001354612.1:c.1277-333_1277-332del	NP_001341541.1:n.1277-333_1277-332del
XM_005266105.5:c.1361-333_1361-332del	XP_005266162.1:n.1361-333_1361-332del
XM_011519021.3:c.1379-333_1379-332del	XP_011517323.1:n.1379-333_1379-332del
XM_011519022.3:c.1376-333_1376-332del	XP_011517324.1:n.1376-333_1376-332del
XM_011519023.3:c.1358-333_1358-332del	XP_011517325.1:n.1358-333_1358-332del
XM_017015134.1:c.1355-333_1355-332del	XP_016870623.1:n.1355-333_1355-332del
XM_017015136.2:c.1271-333_1271-332del	XP_016870625.1:n.1271-333_1271-332del
XM_017015137.1:c.1256-333_1256-332del	XP_016870626.1:n.1256-333_1256-332del
XM_017015138.1:c.1256-333_1256-332del	XP_016870627.1:n.1256-333_1256-332del
XM_024447674.1:c.1199-333_1199-332del	XP_024303442.1:n.1199-333_1199-332del
XM_024447675.1:c.1277-333_1277-332del	XP_024303443.1:n.1277-333_1277-332del
XM_024447676.1:c.494-333_494-332del	XP_024303444.1:n.494-333_494-332del
XM_024447677.1:c.494-333_494-332del	XP_024303445.1:n.494-333_494-332del
XM_024447678.1:c.1277-333_1277-332del	XP_024303446.1:n.1277-333_1277-332del
XM_024447679.1:c.1277-333_1277-332del	XP_024303447.1:n.1277-333_1277-332del
XM_024447680.1:c.1256-333_1256-332del	XP_024303448.1:n.1256-333_1256-332del
NM_024757.5:c.1370-333_1370-332del MANE Select	NP_079033.4:n.1370-333_1370-332del
NM_001145527.2:c.1370-333_1370-332del	NP_001138999.1:n.1370-333_1370-332del
NM_001354259.2:c.1277-333_1277-332del	NP_001341188.1:n.1277-333_1277-332del
NM_001354263.2:c.1349-333_1349-332del	NP_001341192.1:n.1349-333_1349-332del
NM_001354611.2:c.1370-333_1370-332del	NP_001341540.1:n.1370-333_1370-332del
NM_001354612.2:c.1277-333_1277-332del	NP_001341541.1:n.1277-333_1277-332del