Canonical Allele Identifier: CA2739268686

Gene: EPG5

Linked Data

• ClinVar Variation Id: 2843747
• ClinVar RCV Id: RCV003655929

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910518_45910544del , CM000680.2:g.45910518_45910544del	GRCh38
NC_000018.9:g.43490483_43490509del , CM000680.1:g.43490483_43490509del	GRCh37
NC_000018.8:g.41744481_41744507del	NCBI36
NG_042838.1:g.61798_61824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2368_2389+5del
ENST00000587884.2:c.4184_4205+5del
ENST00000590884.6:c.4184_4205+5del
ENST00000592272.6:c.4184_4205+5del
ENST00000696482.1:c.3924_3945+5del
ENST00000696483.1:c.4184_4205+5del
ENST00000696484.1:c.4184_4205+5del
ENST00000696485.1:c.4184_4205+5del
ENST00000696489.1:c.4184_4205+5del
ENST00000696490.1:c.4184_4205+5del
ENST00000282041.11:c.4184_4205+5del
ENST00000282041.9:c.4184_4205+5del
ENST00000585906.5:n.963_984+5del
ENST00000587884.1:c.809_830+5del
ENST00000587974.1:n.4219_4240+5del
ENST00000590884.5:c.809_830+5del
ENST00000592272.5:c.809_830+5del
NM_020964.2:c.4184_4205+5del
XM_011526120.1:c.4211_4232+5del
XM_011526121.1:c.4211_4232+5del
XM_011526122.1:c.4184_4205+5del
XM_011526123.1:c.4211_4232+5del
XM_011526124.1:c.4211_4232+5del
XM_011526125.1:c.4070_4091+5del
XM_011526126.1:c.3146_3167+5del
XM_011526127.1:c.4211_4232+5del
XM_011526128.1:c.4211_4232+5del
XR_935244.1:n.4284_4305+5del
NM_020964.3:c.4184_4205+5del
XM_017025889.1:c.4184_4205+5del
XM_017025890.2:c.4184_4205+5del
XM_017025891.1:c.4043_4064+5del
XM_017025892.1:c.3119_3140+5del
XM_017025893.1:c.809_830+5del
XR_001753256.1:n.4266_4287+5del
XR_001753257.1:n.4266_4287+5del