Canonical Allele Identifier: CA645294057
Gene: EHMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426664
dbSNP Id: rs1085307734

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813422_137813423del , CM000671.2:g.137813422_137813423del GRCh38
NC_000009.11:g.140707874_140707875del , CM000671.1:g.140707874_140707875del GRCh37
NC_000009.10:g.139827695_139827696del NCBI36
NG_011776.1:g.199431_199432del

Transcript Alleles

HGVS Amino-acid change
ENST00000460843.6:c.3072_3073del MANE Select ENSP00000417980.1:p.Val1026GlnfsTer?
ENST00000637161.1:c.2979_2980del ENSP00000490328.1:p.Val995GlnfsTer?
ENST00000637261.1:c.3112_3113del ENSP00000490815.1:n.3112_3113del
ENST00000637891.1:c.966_967del ENSP00000490907.1:p.Val324GlnfsTer?
ENST00000460843.5:c.3072_3073del ENSP00000417980.1:p.Val1026GlnfsTer?
ENST00000462942.3:c.1929_1930del ENSP00000436107.1:p.Val645GlnfsTer?
ENST00000486164.5:c.759_760del
ENST00000488242.2:n.598_599del
NM_024757.4:c.3072_3073del NP_079033.4:p.Val1026GlnfsTer?
XM_005266105.3:c.3063_3064del XP_005266162.1:p.Val1023GlnfsTer?
XM_005266110.1:c.2979_2980del XP_005266167.1:p.Val995GlnfsTer?
XM_006717288.2:c.3054_3055del XP_006717351.1:p.Val1020GlnfsTer?
XM_011519021.1:c.3081_3082del XP_011517323.1:p.Val1029GlnfsTer?
XM_011519022.1:c.3078_3079del XP_011517324.1:p.Val1028GlnfsTer?
XM_011519023.1:c.3060_3061del XP_011517325.1:p.Val1022GlnfsTer?
XM_011519024.1:c.3003_3004del XP_011517326.1:p.Val1003GlnfsTer?
XM_011519025.1:c.2979_2980del XP_011517327.1:p.Val995GlnfsTer?
XM_011519026.1:c.2937_2938del XP_011517328.1:p.Val981GlnfsTer?
XM_011519029.1:c.1503_1504del XP_011517331.1:p.Val503GlnfsTer?
XM_011519030.1:c.855_856del XP_011517332.1:p.Val287GlnfsTer?
XM_011519031.1:c.642_643del XP_011517333.1:p.Val216GlnfsTer?
XM_011519032.1:c.642_643del XP_011517334.1:p.Val216GlnfsTer?
XM_011519033.1:c.2916_2917del XP_011517335.1:p.Val974GlnfsTer?
NM_001354263.1:c.3051_3052del NP_001341192.1:p.Val1019GlnfsTer?
XM_005266105.5:c.3063_3064del XP_005266162.1:p.Val1023GlnfsTer?
XM_011519021.3:c.3081_3082del XP_011517323.1:p.Val1029GlnfsTer?
XM_011519022.3:c.3078_3079del XP_011517324.1:p.Val1028GlnfsTer?
XM_011519023.3:c.3060_3061del XP_011517325.1:p.Val1022GlnfsTer?
XM_011519029.3:c.1503_1504del XP_011517331.1:p.Val503GlnfsTer?
XM_011519030.3:c.855_856del XP_011517332.1:p.Val287GlnfsTer?
XM_017015134.1:c.3057_3058del XP_016870623.1:p.Val1021GlnfsTer?
XM_017015136.2:c.2973_2974del XP_016870625.1:p.Val993GlnfsTer?
XM_017015137.1:c.2958_2959del XP_016870626.1:p.Val988GlnfsTer?
XM_017015138.1:c.2958_2959del XP_016870627.1:p.Val988GlnfsTer?
XM_024447674.1:c.2901_2902del XP_024303442.1:p.Val969GlnfsTer?
XM_024447675.1:c.2835_2836del XP_024303443.1:p.Val947GlnfsTer?
XM_024447676.1:c.2196_2197del XP_024303444.1:p.Val734GlnfsTer?
XM_024447677.1:c.2196_2197del XP_024303445.1:p.Val734GlnfsTer?
XM_024447680.1:c.2814_2815del XP_024303448.1:p.Val940GlnfsTer?
NM_024757.5:c.3072_3073del MANE Select NP_079033.4:p.Val1026GlnfsTer?
NM_001354263.2:c.3051_3052del NP_001341192.1:p.Val1019GlnfsTer?