Canonical Allele Identifier: CA915945837

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 802552
• ClinVar RCV Id: RCV000988316
• dbSNP Id: rs1588854011

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813114del , CM000671.2:g.137813114del	GRCh38
NC_000009.11:g.140707566del , CM000671.1:g.140707566del	GRCh37
NC_000009.10:g.139827387del	NCBI36
NG_011776.1:g.199123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2976del MANE Select	ENSP00000417980.1:p.Ser992ArgfsTer18
ENST00000636027.1:c.2862del	ENSP00000489961.1:p.Ser954ArgfsTer18
ENST00000637161.1:c.2883del	ENSP00000490328.1:p.Ser961ArgfsTer18
ENST00000637261.1:c.3016del	ENSP00000490815.1:n.3016del
ENST00000637891.1:c.870del	ENSP00000490907.1:p.Ser290ArgfsTer18
ENST00000460843.5:c.2976del	ENSP00000417980.1:p.Ser992ArgfsTer18
ENST00000462942.3:c.1833del	ENSP00000436107.1:p.Ser611ArgfsTer18
ENST00000486164.5:c.663del
ENST00000488242.2:n.502del
NM_024757.4:c.2976del	NP_079033.4:p.Ser992ArgfsTer18
XM_005266105.3:c.2967del	XP_005266162.1:p.Ser989ArgfsTer18
XM_005266110.1:c.2883del	XP_005266167.1:p.Ser961ArgfsTer18
XM_006717288.2:c.2958del	XP_006717351.1:p.Ser986ArgfsTer18
XM_011519021.1:c.2985del	XP_011517323.1:p.Ser995ArgfsTer18
XM_011519022.1:c.2982del	XP_011517324.1:p.Ser994ArgfsTer18
XM_011519023.1:c.2964del	XP_011517325.1:p.Ser988ArgfsTer18
XM_011519024.1:c.2907del	XP_011517326.1:p.Ser969ArgfsTer18
XM_011519025.1:c.2883del	XP_011517327.1:p.Ser961ArgfsTer18
XM_011519026.1:c.2841del	XP_011517328.1:p.Ser947ArgfsTer18
XM_011519029.1:c.1407del	XP_011517331.1:p.Ser469ArgfsTer18
XM_011519030.1:c.759del	XP_011517332.1:p.Ser253ArgfsTer18
XM_011519031.1:c.546del	XP_011517333.1:p.Ser182ArgfsTer18
XM_011519032.1:c.546del	XP_011517334.1:p.Ser182ArgfsTer18
XM_011519033.1:c.2820del	XP_011517335.1:p.Ser940ArgfsTer18
NM_001354263.1:c.2955del	NP_001341192.1:p.Ser985ArgfsTer18
XM_005266105.5:c.2967del	XP_005266162.1:p.Ser989ArgfsTer18
XM_011519021.3:c.2985del	XP_011517323.1:p.Ser995ArgfsTer18
XM_011519022.3:c.2982del	XP_011517324.1:p.Ser994ArgfsTer18
XM_011519023.3:c.2964del	XP_011517325.1:p.Ser988ArgfsTer18
XM_011519029.3:c.1407del	XP_011517331.1:p.Ser469ArgfsTer18
XM_011519030.3:c.759del	XP_011517332.1:p.Ser253ArgfsTer18
XM_017015134.1:c.2961del	XP_016870623.1:p.Ser987ArgfsTer18
XM_017015136.2:c.2877del	XP_016870625.1:p.Ser959ArgfsTer18
XM_017015137.1:c.2862del	XP_016870626.1:p.Ser954ArgfsTer18
XM_017015138.1:c.2862del	XP_016870627.1:p.Ser954ArgfsTer18
XM_024447674.1:c.2805del	XP_024303442.1:p.Ser935ArgfsTer18
XM_024447675.1:c.2739del	XP_024303443.1:p.Ser913ArgfsTer18
XM_024447676.1:c.2100del	XP_024303444.1:p.Ser700ArgfsTer18
XM_024447677.1:c.2100del	XP_024303445.1:p.Ser700ArgfsTer18
XM_024447680.1:c.2718del	XP_024303448.1:p.Ser906ArgfsTer18
NM_024757.5:c.2976del MANE Select	NP_079033.4:p.Ser992ArgfsTer18
NM_001354263.2:c.2955del	NP_001341192.1:p.Ser985ArgfsTer18