Canonical Allele Identifier: CA645373134

Gene: EPG5

Linked Data

• PubMed: PMID:3344762 ; PMID:21965116 ; PMID:28615637

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.[45910620del;45967239T>C] , CM000680.2:g.[45910620del;45967239T>C]	GRCh38
NC_000018.9:g.[43490585del;43547205T>C] , CM000680.1:g.[43490585del;43547205T>C]	GRCh37
NC_000018.8:g.[41744583del;41801203T>C]	NCBI36
NG_042838.1:g.[5101A>G;61722del]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587884.2:c.[1A>G;4108del]	ENSP00000466990.2:p.[Met1Val;Leu1370SerfsTer22]
ENST00000590884.6:c.[1A>G;4108del]	ENSP00000466403.2:p.[Met1Val;Leu1370SerfsTer22]
ENST00000592272.6:c.[1A>G;4108del]	ENSP00000467464.2:p.[Met1Val;Leu1370SerfsTer22]
ENST00000696482.1:c.[1A>G;3848del]	ENSP00000512656.1:[p.Met1Val;n.3848del]
ENST00000696483.1:c.[1A>G;4108del]	ENSP00000512657.1:p.[Met1Val;Leu1370SerfsTer22]
ENST00000696484.1:c.[1A>G;4108del]	ENSP00000512658.1:p.[Met1Val;Leu1370SerfsTer22]
ENST00000696485.1:c.[1A>G;4108del]	ENSP00000512659.1:p.[Met1Val;Leu1370SerfsTer22]
ENST00000696489.1:c.[1A>G;4108del]	ENSP00000512660.1:p.[Met1Val;Leu1370SerfsTer22]
ENST00000696490.1:c.[1A>G;4108del]	ENSP00000512661.1:p.[Met1Val;Leu1370SerfsTer22]
ENST00000282041.11:c.[1A>G;4108del] MANE Select	ENSP00000282041.4:p.[Met1Val;Leu1370SerfsTer22]
ENST00000282041.9:c.[1A>G;4108del]	ENSP00000282041.4:p.[Met1Val;Leu1370SerfsTer22]
ENST00000587974.1:n.[36A>G;4143del]
NM_020964.2:c.[1A>G;4108del]	NP_066015.2:p.[Met1Val;Leu1370SerfsTer22]
XM_011526120.1:c.[1A>G;4135del]	XP_011524422.1:p.[Met1Val;Leu1379SerfsTer22]
XM_011526121.1:c.[1A>G;4135del]	XP_011524423.1:p.[Met1Val;Leu1379SerfsTer22]
XM_011526122.1:c.[1A>G;4108del]	XP_011524424.1:p.[Met1Val;Leu1370SerfsTer22]
XM_011526123.1:c.[1A>G;4135del]	XP_011524425.1:p.[Met1Val;Leu1379SerfsTer22]
XM_011526124.1:c.[1A>G;4135del]	XP_011524426.1:p.[Met1Val;Leu1379SerfsTer22]
XM_011526125.1:c.[1A>G;3994del]	XP_011524427.1:p.[Met1Val;Leu1332SerfsTer22]
XM_011526127.1:c.[1A>G;4135del]	XP_011524429.1:p.[Met1Val;Leu1379SerfsTer22]
XM_011526128.1:c.[1A>G;4135del]	XP_011524430.1:p.[Met1Val;Leu1379SerfsTer22]
XR_935244.1:n.[101A>G;4208del]
NM_020964.3:c.[1A>G;4108del] MANE Select	NP_066015.2:p.[Met1Val;Leu1370SerfsTer22]
XM_017025889.1:c.[1A>G;4108del]	XP_016881378.1:p.[Met1Val;Leu1370SerfsTer22]
XM_017025890.2:c.[1A>G;4108del]	XP_016881379.1:p.[Met1Val;Leu1370SerfsTer22]
XM_017025891.1:c.[1A>G;3967del]	XP_016881380.1:p.[Met1Val;Leu1323SerfsTer22]
XR_001753256.1:n.[83A>G;4190del]
XR_001753257.1:n.[83A>G;4190del]