Canonical Allele Identifier: CA5375094

Gene: EHMT1

Linked Data

• dbSNP Id: rs780553767
• ExAC: 9:140707424 TA / T
• gnomAD v2: 9-140707424-TA-T
• gnomAD v3: 9-137812972-TA-T
• gnomAD v4: 9-137812972-TA-T
• MyVariant Identifiers: chr9:g.140707425del (hg19) ; chr9:g.137812973del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137812975del , CM000671.2:g.137812975del	GRCh38
NC_000009.11:g.140707427del , CM000671.1:g.140707427del	GRCh37
NC_000009.10:g.139827248del	NCBI36
NG_011776.1:g.198984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2868-31del MANE Select	ENSP00000417980.1:n.2868-31del
ENST00000636027.1:c.2754-31del	ENSP00000489961.1:n.2754-31del
ENST00000637161.1:c.2775-31del	ENSP00000490328.1:n.2775-31del
ENST00000637261.1:c.2908-31del	ENSP00000490815.1:n.2908-31del
ENST00000637891.1:c.762-31del	ENSP00000490907.1:n.762-31del
ENST00000460843.5:c.2868-31del	ENSP00000417980.1:n.2868-31del
ENST00000462942.3:c.1725-31del	ENSP00000436107.1:n.1725-31del
ENST00000486164.5:c.555-31del
ENST00000488242.2:n.394-31del
NM_024757.4:c.2868-31del	NP_079033.4:n.2868-31del
XM_005266105.3:c.2859-31del	XP_005266162.1:n.2859-31del
XM_005266110.1:c.2775-31del	XP_005266167.1:n.2775-31del
XM_006717288.2:c.2850-31del	XP_006717351.1:n.2850-31del
XM_011519021.1:c.2877-31del	XP_011517323.1:n.2877-31del
XM_011519022.1:c.2874-31del	XP_011517324.1:n.2874-31del
XM_011519023.1:c.2856-31del	XP_011517325.1:n.2856-31del
XM_011519024.1:c.2799-31del	XP_011517326.1:n.2799-31del
XM_011519025.1:c.2775-31del	XP_011517327.1:n.2775-31del
XM_011519026.1:c.2733-31del	XP_011517328.1:n.2733-31del
XM_011519029.1:c.1299-31del	XP_011517331.1:n.1299-31del
XM_011519030.1:c.651-31del	XP_011517332.1:n.651-31del
XM_011519031.1:c.438-31del	XP_011517333.1:n.438-31del
XM_011519032.1:c.438-31del	XP_011517334.1:n.438-31del
XM_011519033.1:c.2712-31del	XP_011517335.1:n.2712-31del
NM_001354263.1:c.2847-31del	NP_001341192.1:n.2847-31del
XM_005266105.5:c.2859-31del	XP_005266162.1:n.2859-31del
XM_011519021.3:c.2877-31del	XP_011517323.1:n.2877-31del
XM_011519022.3:c.2874-31del	XP_011517324.1:n.2874-31del
XM_011519023.3:c.2856-31del	XP_011517325.1:n.2856-31del
XM_011519029.3:c.1299-31del	XP_011517331.1:n.1299-31del
XM_011519030.3:c.651-31del	XP_011517332.1:n.651-31del
XM_017015134.1:c.2853-31del	XP_016870623.1:n.2853-31del
XM_017015136.2:c.2769-31del	XP_016870625.1:n.2769-31del
XM_017015137.1:c.2754-31del	XP_016870626.1:n.2754-31del
XM_017015138.1:c.2754-31del	XP_016870627.1:n.2754-31del
XM_024447674.1:c.2697-31del	XP_024303442.1:n.2697-31del
XM_024447675.1:c.2631-31del	XP_024303443.1:n.2631-31del
XM_024447676.1:c.1992-31del	XP_024303444.1:n.1992-31del
XM_024447677.1:c.1992-31del	XP_024303445.1:n.1992-31del
XM_024447680.1:c.2610-31del	XP_024303448.1:n.2610-31del
NM_024757.5:c.2868-31del MANE Select	NP_079033.4:n.2868-31del
NM_001354263.2:c.2847-31del	NP_001341192.1:n.2847-31del