Canonical Allele Identifier: CA345059

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 65734
• ClinVar RCV Id: RCV000055964 ; RCV000483684
• dbSNP Id: rs786205129
• COSMIC: COSM6031790 ; COSM6031791
• MyVariant Identifiers: chr9:g.140707467_140707470del (hg19) ; chr9:g.137813015_137813018del (hg38)
• PubMed: PMID:20945554 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813015_137813018del , CM000671.2:g.137813015_137813018del	GRCh38
NC_000009.11:g.140707467_140707470del , CM000671.1:g.140707467_140707470del	GRCh37
NC_000009.10:g.139827288_139827291del	NCBI36
NG_011776.1:g.199024_199027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2877_2880del MANE Select	ENSP00000417980.1:p.Ser960GlyfsTer7
ENST00000636027.1:c.2763_2766del	ENSP00000489961.1:p.Ser922GlyfsTer7
ENST00000637161.1:c.2784_2787del	ENSP00000490328.1:p.Ser929GlyfsTer7
ENST00000637261.1:c.2917_2920del	ENSP00000490815.1:n.2917_2920del
ENST00000637891.1:c.771_774del	ENSP00000490907.1:p.Ser258GlyfsTer7
ENST00000460843.5:c.2877_2880del	ENSP00000417980.1:p.Ser960GlyfsTer7
ENST00000462942.3:c.1734_1737del	ENSP00000436107.1:p.Ser579GlyfsTer7
ENST00000486164.5:c.564_567del
ENST00000488242.2:n.403_406del
NM_024757.4:c.2877_2880del	NP_079033.4:p.Ser960GlyfsTer7
XM_005266105.3:c.2868_2871del	XP_005266162.1:p.Ser957GlyfsTer7
XM_005266110.1:c.2784_2787del	XP_005266167.1:p.Ser929GlyfsTer7
XM_006717288.2:c.2859_2862del	XP_006717351.1:p.Ser954GlyfsTer7
XM_011519021.1:c.2886_2889del	XP_011517323.1:p.Ser963GlyfsTer7
XM_011519022.1:c.2883_2886del	XP_011517324.1:p.Ser962GlyfsTer7
XM_011519023.1:c.2865_2868del	XP_011517325.1:p.Ser956GlyfsTer7
XM_011519024.1:c.2808_2811del	XP_011517326.1:p.Ser937GlyfsTer7
XM_011519025.1:c.2784_2787del	XP_011517327.1:p.Ser929GlyfsTer7
XM_011519026.1:c.2742_2745del	XP_011517328.1:p.Ser915GlyfsTer7
XM_011519029.1:c.1308_1311del	XP_011517331.1:p.Ser437GlyfsTer7
XM_011519030.1:c.660_663del	XP_011517332.1:p.Ser221GlyfsTer7
XM_011519031.1:c.447_450del	XP_011517333.1:p.Ser150GlyfsTer7
XM_011519032.1:c.447_450del	XP_011517334.1:p.Ser150GlyfsTer7
XM_011519033.1:c.2721_2724del	XP_011517335.1:p.Ser908GlyfsTer7
NM_001354263.1:c.2856_2859del	NP_001341192.1:p.Ser953GlyfsTer7
XM_005266105.5:c.2868_2871del	XP_005266162.1:p.Ser957GlyfsTer7
XM_011519021.3:c.2886_2889del	XP_011517323.1:p.Ser963GlyfsTer7
XM_011519022.3:c.2883_2886del	XP_011517324.1:p.Ser962GlyfsTer7
XM_011519023.3:c.2865_2868del	XP_011517325.1:p.Ser956GlyfsTer7
XM_011519029.3:c.1308_1311del	XP_011517331.1:p.Ser437GlyfsTer7
XM_011519030.3:c.660_663del	XP_011517332.1:p.Ser221GlyfsTer7
XM_017015134.1:c.2862_2865del	XP_016870623.1:p.Ser955GlyfsTer7
XM_017015136.2:c.2778_2781del	XP_016870625.1:p.Ser927GlyfsTer7
XM_017015137.1:c.2763_2766del	XP_016870626.1:p.Ser922GlyfsTer7
XM_017015138.1:c.2763_2766del	XP_016870627.1:p.Ser922GlyfsTer7
XM_024447674.1:c.2706_2709del	XP_024303442.1:p.Ser903GlyfsTer7
XM_024447675.1:c.2640_2643del	XP_024303443.1:p.Ser881GlyfsTer7
XM_024447676.1:c.2001_2004del	XP_024303444.1:p.Ser668GlyfsTer7
XM_024447677.1:c.2001_2004del	XP_024303445.1:p.Ser668GlyfsTer7
XM_024447680.1:c.2619_2622del	XP_024303448.1:p.Ser874GlyfsTer7
NM_024757.5:c.2877_2880del MANE Select	NP_079033.4:p.Ser960GlyfsTer7
NM_001354263.2:c.2856_2859del	NP_001341192.1:p.Ser953GlyfsTer7