Canonical Allele Identifier: CA913127947

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119037_92119038del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489723_92489724del , CM000669.2:g.92489723_92489724del	GRCh38
NC_000007.13:g.92119037_92119038del , CM000669.1:g.92119037_92119038del	GRCh37
NC_000007.12:g.91956973_91956974del	NCBI36
NG_008341.1:g.43808_43809del
NG_008341.2:g.43808_43809del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3626_3627del (PEX1) MANE Select	ENSP00000248633.4:p.Ser1209ThrfsTer21
ENST00000248633.8:c.3626_3627del (PEX1)	ENSP00000248633.4:p.Ser1209ThrfsTer21
ENST00000428214.5:c.3455_3456del (PEX1)	ENSP00000394413.1:p.Ser1152ThrfsTer21
ENST00000438045.5:c.2660_2661del (PEX1)	ENSP00000410438.1:p.Ser887ThrfsTer21
ENST00000469417.1:n.523_524del (PEX1)
ENST00000477342.1:n.71_72del (PEX1)
ENST00000484913.5:n.3665_3666del (PEX1)
ENST00000496420.5:n.4681_4682del (PEX1)
NM_000466.2:c.3626_3627del (PEX1)	NP_000457.1:p.Ser1209ThrfsTer21
NM_001282677.1:c.3455_3456del (PEX1)	NP_001269606.1:p.Ser1152ThrfsTer21
NM_001282678.1:c.3002_3003del (PEX1)	NP_001269607.1:p.Ser1001ThrfsTer21
XM_005250433.3:c.1877_1878del (PEX1)	XP_005250490.1:p.Ser626ThrfsTer21
XR_242246.3:n.3722_3723del (PEX1)
XR_927494.1:n.1036-1520_1036-1519del (GATAD1)
XR_927495.1:n.1036-363_1036-362del (GATAD1)
XR_927496.1:n.1041-1520_1041-1519del (GATAD1)
XR_927497.1:n.1036-363_1036-362del (GATAD1)
XR_927498.1:n.1124-1520_1124-1519del (GATAD1)
XR_927500.1:n.1033-1520_1033-1519del (GATAD1)
XR_927502.1:n.1033-363_1033-362del (GATAD1)
XR_927503.1:n.967-1520_967-1519del (GATAD1)
XM_017012319.2:c.1877_1878del (PEX1)	XP_016867808.1:p.Ser626ThrfsTer21
XR_001744808.2:n.2653_2654del (PEX1)
XR_001744842.2:n.2281-1520_2281-1519del (GATAD1)
XR_001744843.2:n.2212-1520_2212-1519del (GATAD1)
XR_002956472.1:n.2281-363_2281-362del (GATAD1)
XR_002956473.1:n.2369-1520_2369-1519del (GATAD1)
XR_002956474.1:n.2286-1520_2286-1519del (GATAD1)
XR_242246.5:n.3673_3674del (PEX1)
XR_927494.3:n.1063-1520_1063-1519del (GATAD1)
XR_927500.3:n.1060-1520_1060-1519del (GATAD1)
XR_927503.3:n.994-1520_994-1519del (GATAD1)
NM_000466.3:c.3626_3627del (PEX1) MANE Select	NP_000457.1:p.Ser1209ThrfsTer21
NM_001282677.2:c.3455_3456del (PEX1)	NP_001269606.1:p.Ser1152ThrfsTer21
NM_001282678.2:c.3002_3003del (PEX1)	NP_001269607.1:p.Ser1001ThrfsTer21