Canonical Allele Identifier: CA779724782

Gene: EPG5

Linked Data

• dbSNP Id: rs1260347888
• gnomAD v3: 18-45910802-CA-C
• gnomAD v4: 18-45910802-CA-C
• MyVariant Identifiers: chr18:g.43490768del (hg19) ; chr18:g.45910803del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910803del , CM000680.2:g.45910803del	GRCh38
NC_000018.9:g.43490768del , CM000680.1:g.43490768del	GRCh37
NC_000018.8:g.41744766del	NCBI36
NG_042838.1:g.61537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2168-61del
ENST00000587884.2:c.3984-61del	ENSP00000466990.2:n.3984-61del
ENST00000590884.6:c.3984-61del	ENSP00000466403.2:n.3984-61del
ENST00000592272.6:c.3984-61del	ENSP00000467464.2:n.3984-61del
ENST00000696482.1:c.3724-61del	ENSP00000512656.1:n.3724-61del
ENST00000696483.1:c.3984-61del	ENSP00000512657.1:n.3984-61del
ENST00000696484.1:c.3984-61del	ENSP00000512658.1:n.3984-61del
ENST00000696485.1:c.3984-61del	ENSP00000512659.1:n.3984-61del
ENST00000696489.1:c.3984-61del	ENSP00000512660.1:n.3984-61del
ENST00000696490.1:c.3984-61del	ENSP00000512661.1:n.3984-61del
ENST00000282041.11:c.3984-61del MANE Select	ENSP00000282041.4:n.3984-61del
ENST00000282041.9:c.3984-61del	ENSP00000282041.4:n.3984-61del
ENST00000585906.5:n.763-61del
ENST00000587884.1:c.609-61del	ENSP00000466990.1:n.609-61del
ENST00000587974.1:n.4019-61del
ENST00000590884.5:c.609-61del	ENSP00000466403.1:n.609-61del
ENST00000592272.5:c.609-61del	ENSP00000467464.1:n.609-61del
NM_020964.2:c.3984-61del	NP_066015.2:n.3984-61del
XM_011526120.1:c.4011-61del	XP_011524422.1:n.4011-61del
XM_011526121.1:c.4011-61del	XP_011524423.1:n.4011-61del
XM_011526122.1:c.3984-61del	XP_011524424.1:n.3984-61del
XM_011526123.1:c.4011-61del	XP_011524425.1:n.4011-61del
XM_011526124.1:c.4011-61del	XP_011524426.1:n.4011-61del
XM_011526125.1:c.3870-61del	XP_011524427.1:n.3870-61del
XM_011526126.1:c.2946-61del	XP_011524428.1:n.2946-61del
XM_011526127.1:c.4011-61del	XP_011524429.1:n.4011-61del
XM_011526128.1:c.4011-61del	XP_011524430.1:n.4011-61del
XR_935244.1:n.4084-61del
NM_020964.3:c.3984-61del MANE Select	NP_066015.2:n.3984-61del
XM_017025889.1:c.3984-61del	XP_016881378.1:n.3984-61del
XM_017025890.2:c.3984-61del	XP_016881379.1:n.3984-61del
XM_017025891.1:c.3843-61del	XP_016881380.1:n.3843-61del
XM_017025892.1:c.2919-61del	XP_016881381.1:n.2919-61del
XM_017025893.1:c.609-61del	XP_016881382.1:n.609-61del
XR_001753256.1:n.4066-61del
XR_001753257.1:n.4066-61del