Canonical Allele Identifier: CA345048

Gene: EHMT1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762706_137762709del , CM000671.2:g.137762706_137762709del	GRCh38
NC_000009.11:g.140657158_140657161del , CM000671.1:g.140657158_140657161del	GRCh37
NC_000009.10:g.139776979_139776982del	NCBI36
NG_011776.1:g.148715_148718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1533_1536del MANE Select	ENSP00000417980.1:p.Asp512AlafsTer?
ENST00000629335.2:c.1533_1536del	ENSP00000490056.1:p.Asp512AlafsTer?
ENST00000636027.1:c.1419_1422del	ENSP00000489961.1:p.Asp474AlafsTer?
ENST00000637161.1:c.1440_1443del	ENSP00000490328.1:p.Asp481AlafsTer?
ENST00000637261.1:c.1573_1576del	ENSP00000490815.1:n.1573_1576del
ENST00000637977.1:c.1478_1481del
ENST00000638071.1:c.1160_1163del
ENST00000640639.1:c.702_705del	ENSP00000491823.1:p.Asp235AlafsTer?
ENST00000371394.6:c.*1268_*1271del	ENSP00000485945.1:n.*1268_*1271del
ENST00000460843.5:c.1533_1536del	ENSP00000417980.1:p.Asp512AlafsTer?
ENST00000462484.5:c.1533_1536del	ENSP00000417328.1:p.Asp512AlafsTer?
ENST00000462942.3:c.390_393del	ENSP00000436107.1:p.Asp131AlafsTer?
ENST00000465566.2:c.225_228del	ENSP00000486261.1:p.Asp76AlafsTer?
ENST00000629808.2:c.626_629del
NM_001145527.1:c.1533_1536del	NP_001138999.1:p.Asp512AlafsTer?
NM_024757.4:c.1533_1536del	NP_079033.4:p.Asp512AlafsTer?
XM_005266105.3:c.1524_1527del	XP_005266162.1:p.Asp509AlafsTer?
XM_005266110.1:c.1440_1443del	XP_005266167.1:p.Asp481AlafsTer?
XM_006717288.2:c.1515_1518del	XP_006717351.1:p.Asp506AlafsTer?
XM_011519021.1:c.1542_1545del	XP_011517323.1:p.Asp515AlafsTer?
XM_011519022.1:c.1539_1542del	XP_011517324.1:p.Asp514AlafsTer?
XM_011519023.1:c.1521_1524del	XP_011517325.1:p.Asp508AlafsTer?
XM_011519024.1:c.1464_1467del	XP_011517326.1:p.Asp489AlafsTer?
XM_011519025.1:c.1440_1443del	XP_011517327.1:p.Asp481AlafsTer?
XM_011519026.1:c.1542_1545del	XP_011517328.1:p.Asp515AlafsTer?
XM_011519027.1:c.1542_1545del	XP_011517329.1:p.Asp515AlafsTer?
XM_011519028.1:c.1542_1545del	XP_011517330.1:p.Asp515AlafsTer?
XM_011519029.1:c.-37_-34del	XP_011517331.1:n.-37_-34del
XM_011519033.1:c.1521_1524del	XP_011517335.1:p.Asp508AlafsTer?
NM_001354259.1:c.1440_1443del	NP_001341188.1:p.Asp481AlafsTer?
NM_001354263.1:c.1512_1515del	NP_001341192.1:p.Asp505AlafsTer?
NM_001354611.1:c.1533_1536del	NP_001341540.1:p.Asp512AlafsTer?
NM_001354612.1:c.1440_1443del	NP_001341541.1:p.Asp481AlafsTer?
XM_005266105.5:c.1524_1527del	XP_005266162.1:p.Asp509AlafsTer?
XM_011519021.3:c.1542_1545del	XP_011517323.1:p.Asp515AlafsTer?
XM_011519022.3:c.1539_1542del	XP_011517324.1:p.Asp514AlafsTer?
XM_011519023.3:c.1521_1524del	XP_011517325.1:p.Asp508AlafsTer?
XM_011519029.3:c.-37_-34del	XP_011517331.1:n.-37_-34del
XM_017015134.1:c.1518_1521del	XP_016870623.1:p.Asp507AlafsTer?
XM_017015136.2:c.1434_1437del	XP_016870625.1:p.Asp479AlafsTer?
XM_017015137.1:c.1419_1422del	XP_016870626.1:p.Asp474AlafsTer?
XM_017015138.1:c.1419_1422del	XP_016870627.1:p.Asp474AlafsTer?
XM_024447674.1:c.1362_1365del	XP_024303442.1:p.Asp455AlafsTer?
XM_024447675.1:c.1440_1443del	XP_024303443.1:p.Asp481AlafsTer?
XM_024447676.1:c.657_660del	XP_024303444.1:p.Asp220AlafsTer?
XM_024447677.1:c.657_660del	XP_024303445.1:p.Asp220AlafsTer?
XM_024447678.1:c.1440_1443del	XP_024303446.1:p.Asp481AlafsTer?
XM_024447679.1:c.1440_1443del	XP_024303447.1:p.Asp481AlafsTer?
XM_024447680.1:c.1419_1422del	XP_024303448.1:p.Asp474AlafsTer?
NM_024757.5:c.1533_1536del MANE Select	NP_079033.4:p.Asp512AlafsTer?
NM_001145527.2:c.1533_1536del	NP_001138999.1:p.Asp512AlafsTer?
NM_001354259.2:c.1440_1443del	NP_001341188.1:p.Asp481AlafsTer?
NM_001354263.2:c.1512_1515del	NP_001341192.1:p.Asp505AlafsTer?
NM_001354611.2:c.1533_1536del	NP_001341540.1:p.Asp512AlafsTer?
NM_001354612.2:c.1440_1443del	NP_001341541.1:p.Asp481AlafsTer?