Canonical Allele Identifier: CA1884659564

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762710_137762723delinsGGCCTCCAGGAAGT , CM000671.2:g.137762710_137762723delinsGGCCTCCAGGAAGT	GRCh38
NC_000009.11:g.140657162_140657175delinsGGCCTCCAGGAAGT , CM000671.1:g.140657162_140657175delinsGGCCTCCAGGAAGT	GRCh37
NC_000009.10:g.139776983_139776996delinsGGCCTCCAGGAAGT	NCBI36
NG_011776.1:g.148719_148732delinsGGCCTCCAGGAAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1537_1550delinsGGCCTCCAGGAAGT MANE Select	ENSP00000417980.1:p.Gly513=
ENST00000629335.2:c.1537_1550delinsGGCCTCCAGGAAGT	ENSP00000490056.1:p.Gly513=
ENST00000636027.1:c.1423_1436delinsGGCCTCCAGGAAGT	ENSP00000489961.1:p.Gly475=
ENST00000637161.1:c.1444_1457delinsGGCCTCCAGGAAGT	ENSP00000490328.1:p.Gly482=
ENST00000637261.1:c.1577_1590delinsGGCCTCCAGGAAGT	ENSP00000490815.1:n.1577_1590delinsGGCCTC...
ENST00000637977.1:c.1482_1495delinsGGCCTCCAGGAAGT
ENST00000638071.1:c.1164_1177delinsGGCCTCCAGGAAGT
ENST00000640639.1:c.706_719delinsGGCCTCCAGGAAGT	ENSP00000491823.1:p.Gly236=
ENST00000371394.6:c.*1272_*1285delinsGGCCTCCAGGAAGT	ENSP00000485945.1:n.*1272_*1285delinsGGCC...
ENST00000460843.5:c.1537_1550delinsGGCCTCCAGGAAGT	ENSP00000417980.1:p.Gly513=
ENST00000462484.5:c.1537_1550delinsGGCCTCCAGGAAGT	ENSP00000417328.1:p.Gly513=
ENST00000462942.3:c.394_407delinsGGCCTCCAGGAAGT	ENSP00000436107.1:p.Gly132=
ENST00000465566.2:c.229_242delinsGGCCTCCAGGAAGT	ENSP00000486261.1:p.Gly77=
ENST00000629808.2:c.630_643delinsGGCCTCCAGGAAGT
NM_001145527.1:c.1537_1550delinsGGCCTCCAGGAAGT	NP_001138999.1:p.Gly513=
NM_024757.4:c.1537_1550delinsGGCCTCCAGGAAGT	NP_079033.4:p.Gly513=
XM_005266105.3:c.1528_1541delinsGGCCTCCAGGAAGT	XP_005266162.1:p.Gly510=
XM_005266110.1:c.1444_1457delinsGGCCTCCAGGAAGT	XP_005266167.1:p.Gly482=
XM_006717288.2:c.1519_1532delinsGGCCTCCAGGAAGT	XP_006717351.1:p.Gly507=
XM_011519021.1:c.1546_1559delinsGGCCTCCAGGAAGT	XP_011517323.1:p.Gly516=
XM_011519022.1:c.1543_1556delinsGGCCTCCAGGAAGT	XP_011517324.1:p.Gly515=
XM_011519023.1:c.1525_1538delinsGGCCTCCAGGAAGT	XP_011517325.1:p.Gly509=
XM_011519024.1:c.1468_1481delinsGGCCTCCAGGAAGT	XP_011517326.1:p.Gly490=
XM_011519025.1:c.1444_1457delinsGGCCTCCAGGAAGT	XP_011517327.1:p.Gly482=
XM_011519026.1:c.1546_1559delinsGGCCTCCAGGAAGT	XP_011517328.1:p.Gly516=
XM_011519027.1:c.1546_1559delinsGGCCTCCAGGAAGT	XP_011517329.1:p.Gly516=
XM_011519028.1:c.1546_1559delinsGGCCTCCAGGAAGT	XP_011517330.1:p.Gly516=
XM_011519029.1:c.-33_-20delinsGGCCTCCAGGAAGT	XP_011517331.1:n.-33_-20delinsGGCCTCCAGGA...
XM_011519033.1:c.1525_1538delinsGGCCTCCAGGAAGT	XP_011517335.1:p.Gly509=
NM_001354259.1:c.1444_1457delinsGGCCTCCAGGAAGT	NP_001341188.1:p.Gly482=
NM_001354263.1:c.1516_1529delinsGGCCTCCAGGAAGT	NP_001341192.1:p.Gly506=
NM_001354611.1:c.1537_1550delinsGGCCTCCAGGAAGT	NP_001341540.1:p.Gly513=
NM_001354612.1:c.1444_1457delinsGGCCTCCAGGAAGT	NP_001341541.1:p.Gly482=
XM_005266105.5:c.1528_1541delinsGGCCTCCAGGAAGT	XP_005266162.1:p.Gly510=
XM_011519021.3:c.1546_1559delinsGGCCTCCAGGAAGT	XP_011517323.1:p.Gly516=
XM_011519022.3:c.1543_1556delinsGGCCTCCAGGAAGT	XP_011517324.1:p.Gly515=
XM_011519023.3:c.1525_1538delinsGGCCTCCAGGAAGT	XP_011517325.1:p.Gly509=
XM_011519029.3:c.-33_-20delinsGGCCTCCAGGAAGT	XP_011517331.1:n.-33_-20delinsGGCCTCCAGGA...
XM_017015134.1:c.1522_1535delinsGGCCTCCAGGAAGT	XP_016870623.1:p.Gly508=
XM_017015136.2:c.1438_1451delinsGGCCTCCAGGAAGT	XP_016870625.1:p.Gly480=
XM_017015137.1:c.1423_1436delinsGGCCTCCAGGAAGT	XP_016870626.1:p.Gly475=
XM_017015138.1:c.1423_1436delinsGGCCTCCAGGAAGT	XP_016870627.1:p.Gly475=
XM_024447674.1:c.1366_1379delinsGGCCTCCAGGAAGT	XP_024303442.1:p.Gly456=
XM_024447675.1:c.1444_1457delinsGGCCTCCAGGAAGT	XP_024303443.1:p.Gly482=
XM_024447676.1:c.661_674delinsGGCCTCCAGGAAGT	XP_024303444.1:p.Gly221=
XM_024447677.1:c.661_674delinsGGCCTCCAGGAAGT	XP_024303445.1:p.Gly221=
XM_024447678.1:c.1444_1457delinsGGCCTCCAGGAAGT	XP_024303446.1:p.Gly482=
XM_024447679.1:c.1444_1457delinsGGCCTCCAGGAAGT	XP_024303447.1:p.Gly482=
XM_024447680.1:c.1423_1436delinsGGCCTCCAGGAAGT	XP_024303448.1:p.Gly475=
NM_024757.5:c.1537_1550delinsGGCCTCCAGGAAGT MANE Select	NP_079033.4:p.Gly513=
NM_001145527.2:c.1537_1550delinsGGCCTCCAGGAAGT	NP_001138999.1:p.Gly513=
NM_001354259.2:c.1444_1457delinsGGCCTCCAGGAAGT	NP_001341188.1:p.Gly482=
NM_001354263.2:c.1516_1529delinsGGCCTCCAGGAAGT	NP_001341192.1:p.Gly506=
NM_001354611.2:c.1537_1550delinsGGCCTCCAGGAAGT	NP_001341540.1:p.Gly513=
NM_001354612.2:c.1444_1457delinsGGCCTCCAGGAAGT	NP_001341541.1:p.Gly482=