Canonical Allele Identifier: CA2300578887

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882478_45882492delinsTAAGATCGAACTAAA , CM000680.2:g.45882478_45882492delinsTAAGATCGAACTAAA	GRCh38
NC_000018.9:g.43462443_43462457delinsTAAGATCGAACTAAA , CM000680.1:g.43462443_43462457delinsTAAGATCGAACTAAA	GRCh37
NC_000018.8:g.41716441_41716455delinsTAAGATCGAACTAAA	NCBI36
NG_042838.1:g.89848_89862delinsTTTAGTTCGATCTTA

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.2:c.5305-5_5314delinsTTTAGTTCGATCTTA
NM_020964.3:c.5305-5_5314delinsTTTAGTTCGATCTTA
ENST00000282041.11:c.5305-5_5314delinsTTTAGTTCGATCTTA
ENST00000282041.9:c.5305-5_5314delinsTTTAGTTCGATCTTA
ENST00000585906.5:n.2084-5_2093delinsTTTAGTTCGATCTTA
ENST00000586655.2:n.3622-61_3622-47delinsTTTAGTTCGATCTTA
ENST00000587884.1:c.*1045-5_*1054delinsTTTAGTTCGATCTTA
ENST00000587884.2:c.5431-5_5440delinsTTTAGTTCGATCTTA
ENST00000587973.2:n.1170-5_1179delinsTTTAGTTCGATCTTA
ENST00000590884.5:c.1930-61_1930-47delinsTTTAGTTCGATCTTA	ENSP00000466403.1:n.1930-61_1930-47delinsTTTAGTTCGATCTTA
ENST00000590884.6:c.5305-61_5305-47delinsTTTAGTTCGATCTTA	ENSP00000466403.2:n.5305-61_5305-47delinsTTTAGTTCGATCTTA
ENST00000592272.5:c.1930-5_1939delinsTTTAGTTCGATCTTA
ENST00000592272.6:c.5305-5_5314delinsTTTAGTTCGATCTTA
ENST00000696481.1:n.1937-5_1946delinsTTTAGTTCGATCTTA
ENST00000696482.1:c.5045-5_5054delinsTTTAGTTCGATCTTA
ENST00000696483.1:c.5305-5_5314delinsTTTAGTTCGATCTTA
ENST00000696484.1:c.5305-5_5314delinsTTTAGTTCGATCTTA
ENST00000696485.1:c.5305-61_5305-47delinsTTTAGTTCGATCTTA	ENSP00000512659.1:n.5305-61_5305-47delinsTTTAGTTCGATCTTA
ENST00000696489.1:c.5305-5_5314delinsTTTAGTTCGATCTTA
ENST00000696490.1:c.5305-5_5314delinsTTTAGTTCGATCTTA
XM_011526120.1:c.5332-5_5341delinsTTTAGTTCGATCTTA
XM_011526121.1:c.5332-5_5341delinsTTTAGTTCGATCTTA
XM_011526122.1:c.5305-5_5314delinsTTTAGTTCGATCTTA
XM_011526123.1:c.5332-5_5341delinsTTTAGTTCGATCTTA
XM_011526124.1:c.5332-5_5341delinsTTTAGTTCGATCTTA
XM_011526125.1:c.5191-5_5200delinsTTTAGTTCGATCTTA
XM_011526126.1:c.4267-5_4276delinsTTTAGTTCGATCTTA
XM_011526127.1:c.5332-5_5341delinsTTTAGTTCGATCTTA
XM_011526128.1:c.5332-61_5332-47delinsTTTAGTTCGATCTTA	XP_011524430.1:n.5332-61_5332-47delinsTTTAGTTCGATCTTA
XM_017025889.1:c.5305-5_5314delinsTTTAGTTCGATCTTA
XM_017025890.2:c.5305-5_5314delinsTTTAGTTCGATCTTA
XM_017025891.1:c.5164-5_5173delinsTTTAGTTCGATCTTA
XM_017025892.1:c.4240-5_4249delinsTTTAGTTCGATCTTA
XM_017025893.1:c.1930-5_1939delinsTTTAGTTCGATCTTA
XR_001753256.1:n.5387-5_5396delinsTTTAGTTCGATCTTA
XR_001753257.1:n.5387-61_5387-47delinsTTTAGTTCGATCTTA
XR_935244.1:n.5405-5_5414delinsTTTAGTTCGATCTTA