Canonical Allele Identifier: CA629923985

Gene: EPG5

Linked Data

• dbSNP Id: rs1172734925
• gnomAD v2: 18-43490450-AAAC-A
• gnomAD v4: 18-45910485-AAAC-A
• MyVariant Identifiers: chr18:g.43490451_43490453del (hg19) ; chr18:g.45910486_45910488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910491_45910493del , CM000680.2:g.45910491_45910493del	GRCh38
NC_000018.9:g.43490456_43490458del , CM000680.1:g.43490456_43490458del	GRCh37
NC_000018.8:g.41744454_41744456del	NCBI36
NG_042838.1:g.61852_61854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2389+33_2389+35del
ENST00000587884.2:c.4205+33_4205+35del	ENSP00000466990.2:n.4205+33_4205+35del
ENST00000590884.6:c.4205+33_4205+35del	ENSP00000466403.2:n.4205+33_4205+35del
ENST00000592272.6:c.4205+33_4205+35del	ENSP00000467464.2:n.4205+33_4205+35del
ENST00000696482.1:c.3945+33_3945+35del	ENSP00000512656.1:n.3945+33_3945+35del
ENST00000696483.1:c.4205+33_4205+35del	ENSP00000512657.1:n.4205+33_4205+35del
ENST00000696484.1:c.4205+33_4205+35del	ENSP00000512658.1:n.4205+33_4205+35del
ENST00000696485.1:c.4205+33_4205+35del	ENSP00000512659.1:n.4205+33_4205+35del
ENST00000696489.1:c.4205+33_4205+35del	ENSP00000512660.1:n.4205+33_4205+35del
ENST00000696490.1:c.4205+33_4205+35del	ENSP00000512661.1:n.4205+33_4205+35del
ENST00000282041.11:c.4205+33_4205+35del MANE Select	ENSP00000282041.4:n.4205+33_4205+35del
ENST00000282041.9:c.4205+33_4205+35del	ENSP00000282041.4:n.4205+33_4205+35del
ENST00000585906.5:n.984+33_984+35del
ENST00000587884.1:c.830+33_830+35del	ENSP00000466990.1:n.830+33_830+35del
ENST00000587974.1:n.4240+33_4240+35del
ENST00000590884.5:c.830+33_830+35del	ENSP00000466403.1:n.830+33_830+35del
ENST00000592272.5:c.830+33_830+35del	ENSP00000467464.1:n.830+33_830+35del
NM_020964.2:c.4205+33_4205+35del	NP_066015.2:n.4205+33_4205+35del
XM_011526120.1:c.4232+33_4232+35del	XP_011524422.1:n.4232+33_4232+35del
XM_011526121.1:c.4232+33_4232+35del	XP_011524423.1:n.4232+33_4232+35del
XM_011526122.1:c.4205+33_4205+35del	XP_011524424.1:n.4205+33_4205+35del
XM_011526123.1:c.4232+33_4232+35del	XP_011524425.1:n.4232+33_4232+35del
XM_011526124.1:c.4232+33_4232+35del	XP_011524426.1:n.4232+33_4232+35del
XM_011526125.1:c.4091+33_4091+35del	XP_011524427.1:n.4091+33_4091+35del
XM_011526126.1:c.3167+33_3167+35del	XP_011524428.1:n.3167+33_3167+35del
XM_011526127.1:c.4232+33_4232+35del	XP_011524429.1:n.4232+33_4232+35del
XM_011526128.1:c.4232+33_4232+35del	XP_011524430.1:n.4232+33_4232+35del
XR_935244.1:n.4305+33_4305+35del
NM_020964.3:c.4205+33_4205+35del MANE Select	NP_066015.2:n.4205+33_4205+35del
XM_017025889.1:c.4205+33_4205+35del	XP_016881378.1:n.4205+33_4205+35del
XM_017025890.2:c.4205+33_4205+35del	XP_016881379.1:n.4205+33_4205+35del
XM_017025891.1:c.4064+33_4064+35del	XP_016881380.1:n.4064+33_4064+35del
XM_017025892.1:c.3140+33_3140+35del	XP_016881381.1:n.3140+33_3140+35del
XM_017025893.1:c.830+33_830+35del	XP_016881382.1:n.830+33_830+35del
XR_001753256.1:n.4287+33_4287+35del
XR_001753257.1:n.4287+33_4287+35del