Canonical Allele Identifier: CA2695227689

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882273_45882282del , CM000680.2:g.45882273_45882282del	GRCh38
NC_000018.9:g.43462238_43462247del , CM000680.1:g.43462238_43462247del	GRCh37
NC_000018.8:g.41716236_41716245del	NCBI36
NG_042838.1:g.90059_90068del

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.2:c.5511_5518+2del
NM_020964.3:c.5511_5518+2del
ENST00000282041.11:c.5511_5518+2del
ENST00000282041.9:c.5511_5518+2del
ENST00000585906.5:n.2290_2297+2del
ENST00000586655.2:n.3772_3779+2del
ENST00000587884.1:c.*1251_*1258+2del
ENST00000587884.2:c.5637_5644+2del
ENST00000587973.2:n.1376_1383+2del
ENST00000590884.5:c.*106_*113+2del
ENST00000590884.6:c.5455_5462+2del
ENST00000592272.5:c.2136_2143+2del
ENST00000592272.6:c.5511_5518+2del
ENST00000696481.1:n.2143_2150+2del
ENST00000696482.1:c.5251_5258+2del
ENST00000696483.1:c.5511_5518+2del
ENST00000696484.1:c.5511_5518+2del
ENST00000696485.1:c.*106_*113+2del
ENST00000696489.1:c.5511_5518+2del
ENST00000696490.1:c.5511_5518+2del
XM_011526120.1:c.5538_5545+2del
XM_011526121.1:c.5538_5545+2del
XM_011526122.1:c.5511_5518+2del
XM_011526123.1:c.5538_5545+2del
XM_011526124.1:c.5538_5545+2del
XM_011526125.1:c.5397_5404+2del
XM_011526126.1:c.4473_4480+2del
XM_011526127.1:c.5538_5545+2del
XM_017025889.1:c.5511_5518+2del
XM_017025890.2:c.5511_5518+2del
XM_017025891.1:c.5370_5377+2del
XM_017025892.1:c.4446_4453+2del
XM_017025893.1:c.2136_2143+2del
XR_001753256.1:n.5593_5600+2del
XR_001753257.1:n.5537_5544+2del
XR_935244.1:n.5611_5618+2del