Canonical Allele Identifier: CA2692877058

Gene: EHMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137619039_137619041del , CM000671.2:g.137619039_137619041del	GRCh38
NC_000009.11:g.140513491_140513493del , CM000671.1:g.140513491_140513493del	GRCh37
NC_000009.10:g.139633312_139633314del	NCBI36
NG_011776.1:g.5048_5050del

Transcript Alleles

HGVS	Amino-acid Change
NM_024757.5:c.11_13del MANE Select	NP_079033.4:p.Ala4del
ENST00000460843.6:c.11_13del MANE Select	ENSP00000417980.1:p.Ala4del
NM_001145527.1:c.11_13del	NP_001138999.1:p.Ala4del
NM_001145527.2:c.11_13del	NP_001138999.1:p.Ala4del
NM_001354259.1:c.-19_-17del	NP_001341188.1:n.-19_-17del
NM_001354259.2:c.-19_-17del	NP_001341188.1:n.-19_-17del
NM_001354263.1:c.11_13del	NP_001341192.1:p.Ala4del
NM_001354263.2:c.11_13del	NP_001341192.1:p.Ala4del
NM_001354611.1:c.11_13del	NP_001341540.1:p.Ala4del
NM_001354611.2:c.11_13del	NP_001341540.1:p.Ala4del
NM_001354612.1:c.-19_-17del	NP_001341541.1:n.-19_-17del
NM_001354612.2:c.-19_-17del	NP_001341541.1:n.-19_-17del
NM_024757.4:c.11_13del	NP_079033.4:p.Ala4del
ENST00000371394.6:c.11_13del	ENSP00000485945.1:p.Ala4del
ENST00000460843.5:c.11_13del	ENSP00000417980.1:p.Ala4del
ENST00000462484.5:c.11_13del	ENSP00000417328.1:p.Ala4del
ENST00000626216.2:c.-206_-204del	ENSP00000485878.1:n.-206_-204del
ENST00000629335.2:c.11_13del	ENSP00000490056.1:p.Ala4del
ENST00000630754.2:c.-261_-259del	ENSP00000485933.1:n.-261_-259del
ENST00000637593.1:n.30_32del
XM_005266110.1:c.-19_-17del	XP_005266167.1:n.-19_-17del
XM_017015136.2:c.11_13del	XP_016870625.1:p.Ala4del
XM_017015138.1:c.-19_-17del	XP_016870627.1:n.-19_-17del