Canonical Allele Identifier: CA2692881618

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137757935-C-CTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757935_137757936insTGT , CM000671.2:g.137757935_137757936insTGT	GRCh38
NC_000009.11:g.140652387_140652388insTGT , CM000671.1:g.140652387_140652388insTGT	GRCh37
NC_000009.10:g.139772208_139772209insTGT	NCBI36
NG_011776.1:g.143944_143945insTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1425_1426insTGT MANE Select	ENSP00000417980.1:p.Asp475_Ser476insCys
ENST00000629335.2:c.1425_1426insTGT	ENSP00000490056.1:p.Asp475_Ser476insCys
ENST00000636027.1:c.1311_1312insTGT	ENSP00000489961.1:p.Asp437_Ser438insCys
ENST00000637161.1:c.1332_1333insTGT	ENSP00000490328.1:p.Asp444_Ser445insCys
ENST00000637261.1:c.1465_1466insTGT	ENSP00000490815.1:n.1465_1466insTGT
ENST00000637977.1:c.1370_1371insTGT
ENST00000638071.1:c.1052_1053insTGT
ENST00000640639.1:c.594_595insTGT	ENSP00000491823.1:p.Asp198_Ser199insCys
ENST00000371394.6:c.*1160_*1161insTGT	ENSP00000485945.1:n.*1160_*1161insTGT
ENST00000460843.5:c.1425_1426insTGT	ENSP00000417980.1:p.Asp475_Ser476insCys
ENST00000462484.5:c.1425_1426insTGT	ENSP00000417328.1:p.Asp475_Ser476insCys
ENST00000462942.3:c.282_283insTGT	ENSP00000436107.1:p.Asp94_Ser95insCys
ENST00000465566.2:c.117_118insTGT	ENSP00000486261.1:p.Asp39_Ser40insCys
ENST00000629808.2:c.518_519insTGT
NM_001145527.1:c.1425_1426insTGT	NP_001138999.1:p.Asp475_Ser476insCys
NM_024757.4:c.1425_1426insTGT	NP_079033.4:p.Asp475_Ser476insCys
XM_005266105.3:c.1416_1417insTGT	XP_005266162.1:p.Asp472_Ser473insCys
XM_005266110.1:c.1332_1333insTGT	XP_005266167.1:p.Asp444_Ser445insCys
XM_006717288.2:c.1407_1408insTGT	XP_006717351.1:p.Asp469_Ser470insCys
XM_011519021.1:c.1434_1435insTGT	XP_011517323.1:p.Asp478_Ser479insCys
XM_011519022.1:c.1431_1432insTGT	XP_011517324.1:p.Asp477_Ser478insCys
XM_011519023.1:c.1413_1414insTGT	XP_011517325.1:p.Asp471_Ser472insCys
XM_011519024.1:c.1356_1357insTGT	XP_011517326.1:p.Asp452_Ser453insCys
XM_011519025.1:c.1332_1333insTGT	XP_011517327.1:p.Asp444_Ser445insCys
XM_011519026.1:c.1434_1435insTGT	XP_011517328.1:p.Asp478_Ser479insCys
XM_011519027.1:c.1434_1435insTGT	XP_011517329.1:p.Asp478_Ser479insCys
XM_011519028.1:c.1434_1435insTGT	XP_011517330.1:p.Asp478_Ser479insCys
XM_011519033.1:c.1413_1414insTGT	XP_011517335.1:p.Asp471_Ser472insCys
NM_001354259.1:c.1332_1333insTGT	NP_001341188.1:p.Asp444_Ser445insCys
NM_001354263.1:c.1404_1405insTGT	NP_001341192.1:p.Asp468_Ser469insCys
NM_001354611.1:c.1425_1426insTGT	NP_001341540.1:p.Asp475_Ser476insCys
NM_001354612.1:c.1332_1333insTGT	NP_001341541.1:p.Asp444_Ser445insCys
XM_005266105.5:c.1416_1417insTGT	XP_005266162.1:p.Asp472_Ser473insCys
XM_011519021.3:c.1434_1435insTGT	XP_011517323.1:p.Asp478_Ser479insCys
XM_011519022.3:c.1431_1432insTGT	XP_011517324.1:p.Asp477_Ser478insCys
XM_011519023.3:c.1413_1414insTGT	XP_011517325.1:p.Asp471_Ser472insCys
XM_017015134.1:c.1410_1411insTGT	XP_016870623.1:p.Asp470_Ser471insCys
XM_017015136.2:c.1326_1327insTGT	XP_016870625.1:p.Asp442_Ser443insCys
XM_017015137.1:c.1311_1312insTGT	XP_016870626.1:p.Asp437_Ser438insCys
XM_017015138.1:c.1311_1312insTGT	XP_016870627.1:p.Asp437_Ser438insCys
XM_024447674.1:c.1254_1255insTGT	XP_024303442.1:p.Asp418_Ser419insCys
XM_024447675.1:c.1332_1333insTGT	XP_024303443.1:p.Asp444_Ser445insCys
XM_024447676.1:c.549_550insTGT	XP_024303444.1:p.Asp183_Ser184insCys
XM_024447677.1:c.549_550insTGT	XP_024303445.1:p.Asp183_Ser184insCys
XM_024447678.1:c.1332_1333insTGT	XP_024303446.1:p.Asp444_Ser445insCys
XM_024447679.1:c.1332_1333insTGT	XP_024303447.1:p.Asp444_Ser445insCys
XM_024447680.1:c.1311_1312insTGT	XP_024303448.1:p.Asp437_Ser438insCys
NM_024757.5:c.1425_1426insTGT MANE Select	NP_079033.4:p.Asp475_Ser476insCys
NM_001145527.2:c.1425_1426insTGT	NP_001138999.1:p.Asp475_Ser476insCys
NM_001354259.2:c.1332_1333insTGT	NP_001341188.1:p.Asp444_Ser445insCys
NM_001354263.2:c.1404_1405insTGT	NP_001341192.1:p.Asp468_Ser469insCys
NM_001354611.2:c.1425_1426insTGT	NP_001341540.1:p.Asp475_Ser476insCys
NM_001354612.2:c.1332_1333insTGT	NP_001341541.1:p.Asp444_Ser445insCys