Canonical Allele Identifier: CA658797392

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 431703
• ClinVar RCV Id: RCV000655937
• dbSNP Id: rs1554867189
• MyVariant Identifiers: chr9:g.140652396_140652397del (hg19) ; chr9:g.137757944_137757945del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757944_137757945del , CM000671.2:g.137757944_137757945del	GRCh38
NC_000009.11:g.140652396_140652397del , CM000671.1:g.140652396_140652397del	GRCh37
NC_000009.10:g.139772217_139772218del	NCBI36
NG_011776.1:g.143953_143954del

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1434_1435del MANE Select	ENSP00000417980.1:p.Tyr479HisfsTer?
ENST00000629335.2:c.1434_1435del	ENSP00000490056.1:p.Tyr479HisfsTer?
ENST00000636027.1:c.1320_1321del	ENSP00000489961.1:p.Tyr441HisfsTer?
ENST00000637161.1:c.1341_1342del	ENSP00000490328.1:p.Tyr448HisfsTer?
ENST00000637261.1:c.1474_1475del	ENSP00000490815.1:n.1474_1475del
ENST00000637977.1:c.1379_1380del
ENST00000638071.1:c.1061_1062del
ENST00000640639.1:c.603_604del	ENSP00000491823.1:p.Tyr202HisfsTer?
ENST00000371394.6:c.*1169_*1170del	ENSP00000485945.1:n.*1169_*1170del
ENST00000460843.5:c.1434_1435del	ENSP00000417980.1:p.Tyr479HisfsTer?
ENST00000462484.5:c.1434_1435del	ENSP00000417328.1:p.Tyr479HisfsTer?
ENST00000462942.3:c.291_292del	ENSP00000436107.1:p.Tyr98HisfsTer?
ENST00000465566.2:c.126_127del	ENSP00000486261.1:p.Tyr43HisfsTer?
ENST00000629808.2:c.527_528del
NM_001145527.1:c.1434_1435del	NP_001138999.1:p.Tyr479HisfsTer?
NM_024757.4:c.1434_1435del	NP_079033.4:p.Tyr479HisfsTer?
XM_005266105.3:c.1425_1426del	XP_005266162.1:p.Tyr476HisfsTer?
XM_005266110.1:c.1341_1342del	XP_005266167.1:p.Tyr448HisfsTer?
XM_006717288.2:c.1416_1417del	XP_006717351.1:p.Tyr473HisfsTer?
XM_011519021.1:c.1443_1444del	XP_011517323.1:p.Tyr482HisfsTer?
XM_011519022.1:c.1440_1441del	XP_011517324.1:p.Tyr481HisfsTer?
XM_011519023.1:c.1422_1423del	XP_011517325.1:p.Tyr475HisfsTer?
XM_011519024.1:c.1365_1366del	XP_011517326.1:p.Tyr456HisfsTer?
XM_011519025.1:c.1341_1342del	XP_011517327.1:p.Tyr448HisfsTer?
XM_011519026.1:c.1443_1444del	XP_011517328.1:p.Tyr482HisfsTer?
XM_011519027.1:c.1443_1444del	XP_011517329.1:p.Tyr482HisfsTer?
XM_011519028.1:c.1443_1444del	XP_011517330.1:p.Tyr482HisfsTer?
XM_011519033.1:c.1422_1423del	XP_011517335.1:p.Tyr475HisfsTer?
NM_001354259.1:c.1341_1342del	NP_001341188.1:p.Tyr448HisfsTer?
NM_001354263.1:c.1413_1414del	NP_001341192.1:p.Tyr472HisfsTer?
NM_001354611.1:c.1434_1435del	NP_001341540.1:p.Tyr479HisfsTer?
NM_001354612.1:c.1341_1342del	NP_001341541.1:p.Tyr448HisfsTer?
XM_005266105.5:c.1425_1426del	XP_005266162.1:p.Tyr476HisfsTer?
XM_011519021.3:c.1443_1444del	XP_011517323.1:p.Tyr482HisfsTer?
XM_011519022.3:c.1440_1441del	XP_011517324.1:p.Tyr481HisfsTer?
XM_011519023.3:c.1422_1423del	XP_011517325.1:p.Tyr475HisfsTer?
XM_017015134.1:c.1419_1420del	XP_016870623.1:p.Tyr474HisfsTer?
XM_017015136.2:c.1335_1336del	XP_016870625.1:p.Tyr446HisfsTer?
XM_017015137.1:c.1320_1321del	XP_016870626.1:p.Tyr441HisfsTer?
XM_017015138.1:c.1320_1321del	XP_016870627.1:p.Tyr441HisfsTer?
XM_024447674.1:c.1263_1264del	XP_024303442.1:p.Tyr422HisfsTer?
XM_024447675.1:c.1341_1342del	XP_024303443.1:p.Tyr448HisfsTer?
XM_024447676.1:c.558_559del	XP_024303444.1:p.Tyr187HisfsTer?
XM_024447677.1:c.558_559del	XP_024303445.1:p.Tyr187HisfsTer?
XM_024447678.1:c.1341_1342del	XP_024303446.1:p.Tyr448HisfsTer?
XM_024447679.1:c.1341_1342del	XP_024303447.1:p.Tyr448HisfsTer?
XM_024447680.1:c.1320_1321del	XP_024303448.1:p.Tyr441HisfsTer?
NM_024757.5:c.1434_1435del MANE Select	NP_079033.4:p.Tyr479HisfsTer?
NM_001145527.2:c.1434_1435del	NP_001138999.1:p.Tyr479HisfsTer?
NM_001354259.2:c.1341_1342del	NP_001341188.1:p.Tyr448HisfsTer?
NM_001354263.2:c.1413_1414del	NP_001341192.1:p.Tyr472HisfsTer?
NM_001354611.2:c.1434_1435del	NP_001341540.1:p.Tyr479HisfsTer?
NM_001354612.2:c.1341_1342del	NP_001341541.1:p.Tyr448HisfsTer?