Canonical Allele Identifier: CA2499219807

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1285594
• ClinVar RCV Id: RCV001706951
• dbSNP Id: rs2136274853

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137758012del , CM000671.2:g.137758012del	GRCh38
NC_000009.11:g.140652464del , CM000671.1:g.140652464del	GRCh37
NC_000009.10:g.139772285del	NCBI36
NG_011776.1:g.144021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1501+1del
ENST00000629335.2:c.1501+1del
ENST00000636027.1:c.1387+1del
ENST00000637161.1:c.1408+1del
ENST00000637261.1:c.1541+1del
ENST00000637977.1:c.1446+1del
ENST00000638071.1:c.1128+1del
ENST00000640639.1:c.670+1del
ENST00000371394.6:c.*1236+1del
ENST00000460843.5:c.1501+1del
ENST00000462484.5:c.1501+1del
ENST00000462942.3:c.358+1del
ENST00000465566.2:c.193+1del
ENST00000629808.2:c.594+1del
NM_001145527.1:c.1501+1del
NM_024757.4:c.1501+1del
XM_005266105.3:c.1492+1del
XM_005266110.1:c.1408+1del
XM_006717288.2:c.1483+1del
XM_011519021.1:c.1510+1del
XM_011519022.1:c.1507+1del
XM_011519023.1:c.1489+1del
XM_011519024.1:c.1432+1del
XM_011519025.1:c.1408+1del
XM_011519026.1:c.1510+1del
XM_011519027.1:c.1510+1del
XM_011519028.1:c.1510+1del
XM_011519033.1:c.1489+1del
NM_001354259.1:c.1408+1del
NM_001354263.1:c.1480+1del
NM_001354611.1:c.1501+1del
NM_001354612.1:c.1408+1del
XM_005266105.5:c.1492+1del
XM_011519021.3:c.1510+1del
XM_011519022.3:c.1507+1del
XM_011519023.3:c.1489+1del
XM_017015134.1:c.1486+1del
XM_017015136.2:c.1402+1del
XM_017015137.1:c.1387+1del
XM_017015138.1:c.1387+1del
XM_024447674.1:c.1330+1del
XM_024447675.1:c.1408+1del
XM_024447676.1:c.625+1del
XM_024447677.1:c.625+1del
XM_024447678.1:c.1408+1del
XM_024447679.1:c.1408+1del
XM_024447680.1:c.1387+1del
NM_024757.5:c.1501+1del
NM_001145527.2:c.1501+1del
NM_001354259.2:c.1408+1del
NM_001354263.2:c.1480+1del
NM_001354611.2:c.1501+1del
NM_001354612.2:c.1408+1del