Canonical Allele Identifier: CA2641629155

Gene: EPG5

Linked Data

• gnomAD v4: 18-45910521-C-CGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910521_45910522insGGTGG , CM000680.2:g.45910521_45910522insGGTGG	GRCh38
NC_000018.9:g.43490486_43490487insGGTGG , CM000680.1:g.43490486_43490487insGGTGG	GRCh37
NC_000018.8:g.41744484_41744485insGGTGG	NCBI36
NG_042838.1:g.61818_61819insCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2388_2389insCCACC
ENST00000587884.2:c.4204_4205insCCACC	ENSP00000466990.2:p.Arg1402ThrfsTer12
ENST00000590884.6:c.4204_4205insCCACC	ENSP00000466403.2:p.Arg1402ThrfsTer12
ENST00000592272.6:c.4204_4205insCCACC	ENSP00000467464.2:p.Arg1402ThrfsTer12
ENST00000696482.1:c.3944_3945insCCACC	ENSP00000512656.1:n.3944_3945insCCACC
ENST00000696483.1:c.4204_4205insCCACC	ENSP00000512657.1:p.Arg1402ThrfsTer12
ENST00000696484.1:c.4204_4205insCCACC	ENSP00000512658.1:p.Arg1402ThrfsTer12
ENST00000696485.1:c.4204_4205insCCACC	ENSP00000512659.1:p.Arg1402ThrfsTer12
ENST00000696489.1:c.4204_4205insCCACC	ENSP00000512660.1:p.Arg1402ThrfsTer12
ENST00000696490.1:c.4204_4205insCCACC	ENSP00000512661.1:p.Arg1402ThrfsTer12
ENST00000282041.11:c.4204_4205insCCACC MANE Select	ENSP00000282041.4:p.Arg1402ThrfsTer12
ENST00000282041.9:c.4204_4205insCCACC	ENSP00000282041.4:p.Arg1402ThrfsTer12
ENST00000585906.5:n.983_984insCCACC
ENST00000587884.1:c.829_830insCCACC	ENSP00000466990.1:p.Arg277ThrfsTer12
ENST00000587974.1:n.4239_4240insCCACC
ENST00000590884.5:c.829_830insCCACC	ENSP00000466403.1:p.Arg277ThrfsTer12
ENST00000592272.5:c.829_830insCCACC	ENSP00000467464.1:p.Arg277ThrfsTer12
NM_020964.2:c.4204_4205insCCACC	NP_066015.2:p.Arg1402ThrfsTer12
XM_011526120.1:c.4231_4232insCCACC	XP_011524422.1:p.Arg1411ThrfsTer12
XM_011526121.1:c.4231_4232insCCACC	XP_011524423.1:p.Arg1411ThrfsTer12
XM_011526122.1:c.4204_4205insCCACC	XP_011524424.1:p.Arg1402ThrfsTer12
XM_011526123.1:c.4231_4232insCCACC	XP_011524425.1:p.Arg1411ThrfsTer12
XM_011526124.1:c.4231_4232insCCACC	XP_011524426.1:p.Arg1411ThrfsTer12
XM_011526125.1:c.4090_4091insCCACC	XP_011524427.1:p.Arg1364ThrfsTer12
XM_011526126.1:c.3166_3167insCCACC	XP_011524428.1:p.Arg1056ThrfsTer12
XM_011526127.1:c.4231_4232insCCACC	XP_011524429.1:p.Arg1411ThrfsTer12
XM_011526128.1:c.4231_4232insCCACC	XP_011524430.1:p.Arg1411ThrfsTer12
XR_935244.1:n.4304_4305insCCACC
NM_020964.3:c.4204_4205insCCACC MANE Select	NP_066015.2:p.Arg1402ThrfsTer12
XM_017025889.1:c.4204_4205insCCACC	XP_016881378.1:p.Arg1402ThrfsTer12
XM_017025890.2:c.4204_4205insCCACC	XP_016881379.1:p.Arg1402ThrfsTer12
XM_017025891.1:c.4063_4064insCCACC	XP_016881380.1:p.Arg1355ThrfsTer12
XM_017025892.1:c.3139_3140insCCACC	XP_016881381.1:p.Arg1047ThrfsTer12
XM_017025893.1:c.829_830insCCACC	XP_016881382.1:p.Arg277ThrfsTer12
XR_001753256.1:n.4286_4287insCCACC
XR_001753257.1:n.4286_4287insCCACC