Canonical Allele Identifier: CA2641629148

Gene: EPG5

Linked Data

• gnomAD v4: 18-45910517-TCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910519_45910521del , CM000680.2:g.45910519_45910521del	GRCh38
NC_000018.9:g.43490484_43490486del , CM000680.1:g.43490484_43490486del	GRCh37
NC_000018.8:g.41744482_41744484del	NCBI36
NG_042838.1:g.61820_61822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2389+1_2389+3del
ENST00000587884.2:c.4205+1_4205+3del
ENST00000590884.6:c.4205+1_4205+3del
ENST00000592272.6:c.4205+1_4205+3del
ENST00000696482.1:c.3945+1_3945+3del
ENST00000696483.1:c.4205+1_4205+3del
ENST00000696484.1:c.4205+1_4205+3del
ENST00000696485.1:c.4205+1_4205+3del
ENST00000696489.1:c.4205+1_4205+3del
ENST00000696490.1:c.4205+1_4205+3del
ENST00000282041.11:c.4205+1_4205+3del
ENST00000282041.9:c.4205+1_4205+3del
ENST00000585906.5:n.984+1_984+3del
ENST00000587884.1:c.830+1_830+3del
ENST00000587974.1:n.4240+1_4240+3del
ENST00000590884.5:c.830+1_830+3del
ENST00000592272.5:c.830+1_830+3del
NM_020964.2:c.4205+1_4205+3del
XM_011526120.1:c.4232+1_4232+3del
XM_011526121.1:c.4232+1_4232+3del
XM_011526122.1:c.4205+1_4205+3del
XM_011526123.1:c.4232+1_4232+3del
XM_011526124.1:c.4232+1_4232+3del
XM_011526125.1:c.4091+1_4091+3del
XM_011526126.1:c.3167+1_3167+3del
XM_011526127.1:c.4232+1_4232+3del
XM_011526128.1:c.4232+1_4232+3del
XR_935244.1:n.4305+1_4305+3del
NM_020964.3:c.4205+1_4205+3del
XM_017025889.1:c.4205+1_4205+3del
XM_017025890.2:c.4205+1_4205+3del
XM_017025891.1:c.4064+1_4064+3del
XM_017025892.1:c.3140+1_3140+3del
XM_017025893.1:c.830+1_830+3del
XR_001753256.1:n.4287+1_4287+3del
XR_001753257.1:n.4287+1_4287+3del