Canonical Allele Identifier: CA861224435

Gene: EHMT1

Linked Data

• dbSNP Id: rs1407821795
• gnomAD v3: 9-137813240-GA-G
• gnomAD v4: 9-137813240-GA-G
• MyVariant Identifiers: chr9:g.140707693del (hg19) ; chr9:g.137813241del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813243del , CM000671.2:g.137813243del	GRCh38
NC_000009.11:g.140707695del , CM000671.1:g.140707695del	GRCh37
NC_000009.10:g.139827516del	NCBI36
NG_011776.1:g.199252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3035+70del MANE Select	ENSP00000417980.1:n.3035+70del
ENST00000636027.1:c.2921+70del	ENSP00000489961.1:n.2921+70del
ENST00000637161.1:c.2942+70del	ENSP00000490328.1:n.2942+70del
ENST00000637261.1:c.3075+70del	ENSP00000490815.1:n.3075+70del
ENST00000637891.1:c.929+70del	ENSP00000490907.1:n.929+70del
ENST00000460843.5:c.3035+70del	ENSP00000417980.1:n.3035+70del
ENST00000462942.3:c.1892+70del	ENSP00000436107.1:n.1892+70del
ENST00000486164.5:c.722+70del
ENST00000488242.2:n.561+70del
NM_024757.4:c.3035+70del	NP_079033.4:n.3035+70del
XM_005266105.3:c.3026+70del	XP_005266162.1:n.3026+70del
XM_005266110.1:c.2942+70del	XP_005266167.1:n.2942+70del
XM_006717288.2:c.3017+70del	XP_006717351.1:n.3017+70del
XM_011519021.1:c.3044+70del	XP_011517323.1:n.3044+70del
XM_011519022.1:c.3041+70del	XP_011517324.1:n.3041+70del
XM_011519023.1:c.3023+70del	XP_011517325.1:n.3023+70del
XM_011519024.1:c.2966+70del	XP_011517326.1:n.2966+70del
XM_011519025.1:c.2942+70del	XP_011517327.1:n.2942+70del
XM_011519026.1:c.2900+70del	XP_011517328.1:n.2900+70del
XM_011519029.1:c.1466+70del	XP_011517331.1:n.1466+70del
XM_011519030.1:c.818+70del	XP_011517332.1:n.818+70del
XM_011519031.1:c.605+70del	XP_011517333.1:n.605+70del
XM_011519032.1:c.605+70del	XP_011517334.1:n.605+70del
XM_011519033.1:c.2879+70del	XP_011517335.1:n.2879+70del
NM_001354263.1:c.3014+70del	NP_001341192.1:n.3014+70del
XM_005266105.5:c.3026+70del	XP_005266162.1:n.3026+70del
XM_011519021.3:c.3044+70del	XP_011517323.1:n.3044+70del
XM_011519022.3:c.3041+70del	XP_011517324.1:n.3041+70del
XM_011519023.3:c.3023+70del	XP_011517325.1:n.3023+70del
XM_011519029.3:c.1466+70del	XP_011517331.1:n.1466+70del
XM_011519030.3:c.818+70del	XP_011517332.1:n.818+70del
XM_017015134.1:c.3020+70del	XP_016870623.1:n.3020+70del
XM_017015136.2:c.2936+70del	XP_016870625.1:n.2936+70del
XM_017015137.1:c.2921+70del	XP_016870626.1:n.2921+70del
XM_017015138.1:c.2921+70del	XP_016870627.1:n.2921+70del
XM_024447674.1:c.2864+70del	XP_024303442.1:n.2864+70del
XM_024447675.1:c.2798+70del	XP_024303443.1:n.2798+70del
XM_024447676.1:c.2159+70del	XP_024303444.1:n.2159+70del
XM_024447677.1:c.2159+70del	XP_024303445.1:n.2159+70del
XM_024447680.1:c.2777+70del	XP_024303448.1:n.2777+70del
NM_024757.5:c.3035+70del MANE Select	NP_079033.4:n.3035+70del
NM_001354263.2:c.3014+70del	NP_001341192.1:n.3014+70del