Canonical Allele Identifier: CA2812342096

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882497_45882498insCC , CM000680.2:g.45882497_45882498insCC	GRCh38
NC_000018.9:g.43462462_43462463insCC , CM000680.1:g.43462462_43462463insCC	GRCh37
NC_000018.8:g.41716460_41716461insCC	NCBI36
NG_042838.1:g.89842_89843insGG

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5305-11_5305-10insGG MANE Select	NP_066015.2:n.5305-11_5305-10insGG
ENST00000282041.11:c.5305-11_5305-10insGG MANE Select	ENSP00000282041.4:n.5305-11_5305-10insGG
NM_020964.2:c.5305-11_5305-10insGG	NP_066015.2:n.5305-11_5305-10insGG
ENST00000282041.9:c.5305-11_5305-10insGG	ENSP00000282041.4:n.5305-11_5305-10insGG
ENST00000585906.5:n.2084-11_2084-10insGG
ENST00000586655.2:n.3622-67_3622-66insGG
ENST00000587884.1:c.*1045-11_*1045-10insGG	ENSP00000466990.1:n.*1045-11_*1045-10insGG
ENST00000587884.2:c.5431-11_5431-10insGG	ENSP00000466990.2:n.5431-11_5431-10insGG
ENST00000587973.2:n.1170-11_1170-10insGG
ENST00000590884.5:c.1930-67_1930-66insGG	ENSP00000466403.1:n.1930-67_1930-66insGG
ENST00000590884.6:c.5305-67_5305-66insGG	ENSP00000466403.2:n.5305-67_5305-66insGG
ENST00000592272.5:c.1930-11_1930-10insGG	ENSP00000467464.1:n.1930-11_1930-10insGG
ENST00000592272.6:c.5305-11_5305-10insGG	ENSP00000467464.2:n.5305-11_5305-10insGG
ENST00000696481.1:n.1937-11_1937-10insGG
ENST00000696482.1:c.5045-11_5045-10insGG	ENSP00000512656.1:n.5045-11_5045-10insGG
ENST00000696483.1:c.5305-11_5305-10insGG	ENSP00000512657.1:n.5305-11_5305-10insGG
ENST00000696484.1:c.5305-11_5305-10insGG	ENSP00000512658.1:n.5305-11_5305-10insGG
ENST00000696485.1:c.5305-67_5305-66insGG	ENSP00000512659.1:n.5305-67_5305-66insGG
ENST00000696489.1:c.5305-11_5305-10insGG	ENSP00000512660.1:n.5305-11_5305-10insGG
ENST00000696490.1:c.5305-11_5305-10insGG	ENSP00000512661.1:n.5305-11_5305-10insGG
XM_011526120.1:c.5332-11_5332-10insGG	XP_011524422.1:n.5332-11_5332-10insGG
XM_011526121.1:c.5332-11_5332-10insGG	XP_011524423.1:n.5332-11_5332-10insGG
XM_011526122.1:c.5305-11_5305-10insGG	XP_011524424.1:n.5305-11_5305-10insGG
XM_011526123.1:c.5332-11_5332-10insGG	XP_011524425.1:n.5332-11_5332-10insGG
XM_011526124.1:c.5332-11_5332-10insGG	XP_011524426.1:n.5332-11_5332-10insGG
XM_011526125.1:c.5191-11_5191-10insGG	XP_011524427.1:n.5191-11_5191-10insGG
XM_011526126.1:c.4267-11_4267-10insGG	XP_011524428.1:n.4267-11_4267-10insGG
XM_011526127.1:c.5332-11_5332-10insGG	XP_011524429.1:n.5332-11_5332-10insGG
XM_011526128.1:c.5332-67_5332-66insGG	XP_011524430.1:n.5332-67_5332-66insGG
XM_017025889.1:c.5305-11_5305-10insGG	XP_016881378.1:n.5305-11_5305-10insGG
XM_017025890.2:c.5305-11_5305-10insGG	XP_016881379.1:n.5305-11_5305-10insGG
XM_017025891.1:c.5164-11_5164-10insGG	XP_016881380.1:n.5164-11_5164-10insGG
XM_017025892.1:c.4240-11_4240-10insGG	XP_016881381.1:n.4240-11_4240-10insGG
XM_017025893.1:c.1930-11_1930-10insGG	XP_016881382.1:n.1930-11_1930-10insGG
XR_001753256.1:n.5387-11_5387-10insGG
XR_001753257.1:n.5387-67_5387-66insGG
XR_935244.1:n.5405-11_5405-10insGG