Canonical Allele Identifier: CA3039103519

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882500_45882501insCC , CM000680.2:g.45882500_45882501insCC	GRCh38
NC_000018.9:g.43462465_43462466insCC , CM000680.1:g.43462465_43462466insCC	GRCh37
NC_000018.8:g.41716463_41716464insCC	NCBI36
NG_042838.1:g.89839_89840insGG

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5305-14_5305-13insGG MANE Select	NP_066015.2:n.5305-14_5305-13insGG
ENST00000282041.11:c.5305-14_5305-13insGG MANE Select	ENSP00000282041.4:n.5305-14_5305-13insGG
NM_020964.2:c.5305-14_5305-13insGG	NP_066015.2:n.5305-14_5305-13insGG
ENST00000282041.9:c.5305-14_5305-13insGG	ENSP00000282041.4:n.5305-14_5305-13insGG
ENST00000585906.5:n.2084-14_2084-13insGG
ENST00000586655.2:n.3622-70_3622-69insGG
ENST00000587884.1:c.*1045-14_*1045-13insGG	ENSP00000466990.1:n.*1045-14_*1045-13insGG
ENST00000587884.2:c.5431-14_5431-13insGG	ENSP00000466990.2:n.5431-14_5431-13insGG
ENST00000587973.2:n.1170-14_1170-13insGG
ENST00000590884.5:c.1930-70_1930-69insGG	ENSP00000466403.1:n.1930-70_1930-69insGG
ENST00000590884.6:c.5305-70_5305-69insGG	ENSP00000466403.2:n.5305-70_5305-69insGG
ENST00000592272.5:c.1930-14_1930-13insGG	ENSP00000467464.1:n.1930-14_1930-13insGG
ENST00000592272.6:c.5305-14_5305-13insGG	ENSP00000467464.2:n.5305-14_5305-13insGG
ENST00000696481.1:n.1937-14_1937-13insGG
ENST00000696482.1:c.5045-14_5045-13insGG	ENSP00000512656.1:n.5045-14_5045-13insGG
ENST00000696483.1:c.5305-14_5305-13insGG	ENSP00000512657.1:n.5305-14_5305-13insGG
ENST00000696484.1:c.5305-14_5305-13insGG	ENSP00000512658.1:n.5305-14_5305-13insGG
ENST00000696485.1:c.5305-70_5305-69insGG	ENSP00000512659.1:n.5305-70_5305-69insGG
ENST00000696489.1:c.5305-14_5305-13insGG	ENSP00000512660.1:n.5305-14_5305-13insGG
ENST00000696490.1:c.5305-14_5305-13insGG	ENSP00000512661.1:n.5305-14_5305-13insGG
XM_011526120.1:c.5332-14_5332-13insGG	XP_011524422.1:n.5332-14_5332-13insGG
XM_011526121.1:c.5332-14_5332-13insGG	XP_011524423.1:n.5332-14_5332-13insGG
XM_011526122.1:c.5305-14_5305-13insGG	XP_011524424.1:n.5305-14_5305-13insGG
XM_011526123.1:c.5332-14_5332-13insGG	XP_011524425.1:n.5332-14_5332-13insGG
XM_011526124.1:c.5332-14_5332-13insGG	XP_011524426.1:n.5332-14_5332-13insGG
XM_011526125.1:c.5191-14_5191-13insGG	XP_011524427.1:n.5191-14_5191-13insGG
XM_011526126.1:c.4267-14_4267-13insGG	XP_011524428.1:n.4267-14_4267-13insGG
XM_011526127.1:c.5332-14_5332-13insGG	XP_011524429.1:n.5332-14_5332-13insGG
XM_011526128.1:c.5332-70_5332-69insGG	XP_011524430.1:n.5332-70_5332-69insGG
XM_017025889.1:c.5305-14_5305-13insGG	XP_016881378.1:n.5305-14_5305-13insGG
XM_017025890.2:c.5305-14_5305-13insGG	XP_016881379.1:n.5305-14_5305-13insGG
XM_017025891.1:c.5164-14_5164-13insGG	XP_016881380.1:n.5164-14_5164-13insGG
XM_017025892.1:c.4240-14_4240-13insGG	XP_016881381.1:n.4240-14_4240-13insGG
XM_017025893.1:c.1930-14_1930-13insGG	XP_016881382.1:n.1930-14_1930-13insGG
XR_001753256.1:n.5387-14_5387-13insGG
XR_001753257.1:n.5387-70_5387-69insGG
XR_935244.1:n.5405-14_5405-13insGG