Canonical Allele Identifier: CA1725928531

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791314513

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491444_92491445insCA , CM000669.2:g.92491444_92491445insCA	GRCh38
NC_000007.13:g.92120758_92120759insCA , CM000669.1:g.92120758_92120759insCA	GRCh37
NC_000007.12:g.91958694_91958695insCA	NCBI36
NG_008341.1:g.42087_42088insTG
NG_008341.2:g.42087_42088insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3265_3266insTG (PEX1) MANE Select	ENSP00000248633.4:p.His1089LeufsTer17
ENST00000248633.8:c.3265_3266insTG (PEX1)	ENSP00000248633.4:p.His1089LeufsTer17
ENST00000428214.5:c.3094_3095insTG (PEX1)	ENSP00000394413.1:p.His1032LeufsTer17
ENST00000438045.5:c.2299_2300insTG (PEX1)	ENSP00000410438.1:p.His767LeufsTer17
ENST00000484913.5:n.3304_3305insTG (PEX1)
ENST00000496420.5:n.4320_4321insTG (PEX1)
NM_000466.2:c.3265_3266insTG (PEX1)	NP_000457.1:p.His1089LeufsTer17
NM_001282677.1:c.3094_3095insTG (PEX1)	NP_001269606.1:p.His1032LeufsTer17
NM_001282678.1:c.2641_2642insTG (PEX1)	NP_001269607.1:p.His881LeufsTer17
XM_005250433.3:c.1516_1517insTG (PEX1)	XP_005250490.1:p.His506LeufsTer17
XR_242246.3:n.3361_3362insTG (PEX1)
XM_017012319.2:c.1516_1517insTG (PEX1)	XP_016867808.1:p.His506LeufsTer17
XR_001744808.2:n.2292_2293insTG (PEX1)
XR_001744842.2:n.2482_2483insCA (GATAD1)
XR_001744843.2:n.2413_2414insCA (GATAD1)
XR_002956472.1:n.2539_2540insCA (GATAD1)
XR_002956473.1:n.2570_2571insCA (GATAD1)
XR_002956474.1:n.2487_2488insCA (GATAD1)
XR_242246.5:n.3312_3313insTG (PEX1)
XR_927494.3:n.1264_1265insCA (GATAD1)
XR_927500.3:n.1261_1262insCA (GATAD1)
XR_927503.3:n.1195_1196insCA (GATAD1)
NM_000466.3:c.3265_3266insTG (PEX1) MANE Select	NP_000457.1:p.His1089LeufsTer17
NM_001282677.2:c.3094_3095insTG (PEX1)	NP_001269606.1:p.His1032LeufsTer17
NM_001282678.2:c.2641_2642insTG (PEX1)	NP_001269607.1:p.His881LeufsTer17