Canonical Allele Identifier: CA1725927199

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489867_92489868delinsCA , CM000669.2:g.92489867_92489868delinsCA	GRCh38
NC_000007.13:g.92119181_92119182delinsCA , CM000669.1:g.92119181_92119182delinsCA	GRCh37
NC_000007.12:g.91957117_91957118delinsCA	NCBI36
NG_008341.1:g.43664_43665delinsTG
NG_008341.2:g.43664_43665delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3482_3483delinsTG (PEX1) MANE Select	ENSP00000248633.4:p.Leu1161=
ENST00000248633.8:c.3482_3483delinsTG (PEX1)	ENSP00000248633.4:p.Leu1161=
ENST00000428214.5:c.3311_3312delinsTG (PEX1)	ENSP00000394413.1:p.Leu1104=
ENST00000438045.5:c.2516_2517delinsTG (PEX1)	ENSP00000410438.1:p.Leu839=
ENST00000469417.1:n.379_380delinsTG (PEX1)
ENST00000484913.5:n.3521_3522delinsTG (PEX1)
ENST00000496420.5:n.4537_4538delinsTG (PEX1)
NM_000466.2:c.3482_3483delinsTG (PEX1)	NP_000457.1:p.Leu1161=
NM_001282677.1:c.3311_3312delinsTG (PEX1)	NP_001269606.1:p.Leu1104=
NM_001282678.1:c.2858_2859delinsTG (PEX1)	NP_001269607.1:p.Leu953=
XM_005250433.3:c.1733_1734delinsTG (PEX1)	XP_005250490.1:p.Leu578=
XR_242246.3:n.3578_3579delinsTG (PEX1)
XR_927494.1:n.1036-1376_1036-1375delinsCA (GATAD1)
XR_927495.1:n.1036-219_1036-218delinsCA (GATAD1)
XR_927496.1:n.1041-1376_1041-1375delinsCA (GATAD1)
XR_927497.1:n.1036-219_1036-218delinsCA (GATAD1)
XR_927498.1:n.1124-1376_1124-1375delinsCA (GATAD1)
XR_927500.1:n.1033-1376_1033-1375delinsCA (GATAD1)
XR_927502.1:n.1033-219_1033-218delinsCA (GATAD1)
XR_927503.1:n.967-1376_967-1375delinsCA (GATAD1)
XM_017012319.2:c.1733_1734delinsTG (PEX1)	XP_016867808.1:p.Leu578=
XR_001744808.2:n.2509_2510delinsTG (PEX1)
XR_001744842.2:n.2281-1376_2281-1375delinsCA (GATAD1)
XR_001744843.2:n.2212-1376_2212-1375delinsCA (GATAD1)
XR_002956472.1:n.2281-219_2281-218delinsCA (GATAD1)
XR_002956473.1:n.2369-1376_2369-1375delinsCA (GATAD1)
XR_002956474.1:n.2286-1376_2286-1375delinsCA (GATAD1)
XR_242246.5:n.3529_3530delinsTG (PEX1)
XR_927494.3:n.1063-1376_1063-1375delinsCA (GATAD1)
XR_927500.3:n.1060-1376_1060-1375delinsCA (GATAD1)
XR_927503.3:n.994-1376_994-1375delinsCA (GATAD1)
NM_000466.3:c.3482_3483delinsTG (PEX1) MANE Select	NP_000457.1:p.Leu1161=
NM_001282677.2:c.3311_3312delinsTG (PEX1)	NP_001269606.1:p.Leu1104=
NM_001282678.2:c.2858_2859delinsTG (PEX1)	NP_001269607.1:p.Leu953=