Canonical Allele Identifier: CA2641631688

Gene: EPG5

Linked Data

• gnomAD v4: 18-45930929-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45930932_45930933dup , CM000680.2:g.45930932_45930933dup	GRCh38
NC_000018.9:g.43510898_43510899dup , CM000680.1:g.43510898_43510899dup	GRCh37
NC_000018.8:g.41764896_41764897dup	NCBI36
NG_042838.1:g.41409_41410dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587884.2:c.2258-101_2258-100dup	ENSP00000466990.2:n.2258-101_2258-100dup
ENST00000590884.6:c.2258-101_2258-100dup	ENSP00000466403.2:n.2258-101_2258-100dup
ENST00000592272.6:c.2258-101_2258-100dup	ENSP00000467464.2:n.2258-101_2258-100dup
ENST00000696480.1:n.1199-101_1199-100dup
ENST00000696482.1:c.2258-101_2258-100dup	ENSP00000512656.1:n.2258-101_2258-100dup
ENST00000696483.1:c.2258-101_2258-100dup	ENSP00000512657.1:n.2258-101_2258-100dup
ENST00000696484.1:c.2258-101_2258-100dup	ENSP00000512658.1:n.2258-101_2258-100dup
ENST00000696485.1:c.2258-101_2258-100dup	ENSP00000512659.1:n.2258-101_2258-100dup
ENST00000696489.1:c.2258-101_2258-100dup	ENSP00000512660.1:n.2258-101_2258-100dup
ENST00000696490.1:c.2258-101_2258-100dup	ENSP00000512661.1:n.2258-101_2258-100dup
ENST00000282041.11:c.2258-101_2258-100dup MANE Select	ENSP00000282041.4:n.2258-101_2258-100dup
ENST00000282041.9:c.2258-101_2258-100dup	ENSP00000282041.4:n.2258-101_2258-100dup
ENST00000587974.1:n.2293-101_2293-100dup
NM_020964.2:c.2258-101_2258-100dup	NP_066015.2:n.2258-101_2258-100dup
XM_011526120.1:c.2258-101_2258-100dup	XP_011524422.1:n.2258-101_2258-100dup
XM_011526121.1:c.2258-101_2258-100dup	XP_011524423.1:n.2258-101_2258-100dup
XM_011526122.1:c.2258-101_2258-100dup	XP_011524424.1:n.2258-101_2258-100dup
XM_011526123.1:c.2258-101_2258-100dup	XP_011524425.1:n.2258-101_2258-100dup
XM_011526124.1:c.2258-101_2258-100dup	XP_011524426.1:n.2258-101_2258-100dup
XM_011526125.1:c.2258-101_2258-100dup	XP_011524427.1:n.2258-101_2258-100dup
XM_011526126.1:c.1193-101_1193-100dup	XP_011524428.1:n.1193-101_1193-100dup
XM_011526127.1:c.2258-101_2258-100dup	XP_011524429.1:n.2258-101_2258-100dup
XM_011526128.1:c.2258-101_2258-100dup	XP_011524430.1:n.2258-101_2258-100dup
XR_935244.1:n.2358-101_2358-100dup
NM_020964.3:c.2258-101_2258-100dup MANE Select	NP_066015.2:n.2258-101_2258-100dup
XM_017025889.1:c.2258-101_2258-100dup	XP_016881378.1:n.2258-101_2258-100dup
XM_017025890.2:c.2258-101_2258-100dup	XP_016881379.1:n.2258-101_2258-100dup
XM_017025891.1:c.2258-101_2258-100dup	XP_016881380.1:n.2258-101_2258-100dup
XM_017025892.1:c.1193-101_1193-100dup	XP_016881381.1:n.1193-101_1193-100dup
XM_017025893.1:c.-858-101_-858-100dup	XP_016881382.1:n.-858-101_-858-100dup
XR_001753256.1:n.2340-101_2340-100dup
XR_001753257.1:n.2340-101_2340-100dup