Canonical Allele Identifier: CA658822682

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 555854
• ClinVar RCV Id: RCV000671761
• dbSNP Id: rs1160117945
• gnomAD v3: 7-92489768-ATC-A
• gnomAD v4: 7-92489768-ATC-A
• MyVariant Identifiers: chr7:g.92119083_92119084del (hg19) ; chr7:g.92489769_92489770del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489772_92489773del , CM000669.2:g.92489772_92489773del	GRCh38
NC_000007.13:g.92119086_92119087del , CM000669.1:g.92119086_92119087del	GRCh37
NC_000007.12:g.91957022_91957023del	NCBI36
NG_008341.1:g.43762_43763del
NG_008341.2:g.43762_43763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3580_3581del (PEX1) MANE Select	ENSP00000248633.4:p.Asp1194SerfsTer?
ENST00000248633.8:c.3580_3581del (PEX1)	ENSP00000248633.4:p.Asp1194SerfsTer?
ENST00000428214.5:c.3409_3410del (PEX1)	ENSP00000394413.1:p.Asp1137SerfsTer?
ENST00000438045.5:c.2614_2615del (PEX1)	ENSP00000410438.1:p.Asp872SerfsTer?
ENST00000469417.1:n.477_478del (PEX1)
ENST00000477342.1:n.25_26del (PEX1)
ENST00000484913.5:n.3619_3620del (PEX1)
ENST00000496420.5:n.4635_4636del (PEX1)
NM_000466.2:c.3580_3581del (PEX1)	NP_000457.1:p.Asp1194SerfsTer?
NM_001282677.1:c.3409_3410del (PEX1)	NP_001269606.1:p.Asp1137SerfsTer?
NM_001282678.1:c.2956_2957del (PEX1)	NP_001269607.1:p.Asp986SerfsTer?
XM_005250433.3:c.1831_1832del (PEX1)	XP_005250490.1:p.Asp611SerfsTer?
XR_242246.3:n.3676_3677del (PEX1)
XR_927494.1:n.1036-1471_1036-1470del (GATAD1)
XR_927495.1:n.1036-314_1036-313del (GATAD1)
XR_927496.1:n.1041-1471_1041-1470del (GATAD1)
XR_927497.1:n.1036-314_1036-313del (GATAD1)
XR_927498.1:n.1124-1471_1124-1470del (GATAD1)
XR_927500.1:n.1033-1471_1033-1470del (GATAD1)
XR_927502.1:n.1033-314_1033-313del (GATAD1)
XR_927503.1:n.967-1471_967-1470del (GATAD1)
XM_017012319.2:c.1831_1832del (PEX1)	XP_016867808.1:p.Asp611SerfsTer?
XR_001744808.2:n.2607_2608del (PEX1)
XR_001744842.2:n.2281-1471_2281-1470del (GATAD1)
XR_001744843.2:n.2212-1471_2212-1470del (GATAD1)
XR_002956472.1:n.2281-314_2281-313del (GATAD1)
XR_002956473.1:n.2369-1471_2369-1470del (GATAD1)
XR_002956474.1:n.2286-1471_2286-1470del (GATAD1)
XR_242246.5:n.3627_3628del (PEX1)
XR_927494.3:n.1063-1471_1063-1470del (GATAD1)
XR_927500.3:n.1060-1471_1060-1470del (GATAD1)
XR_927503.3:n.994-1471_994-1470del (GATAD1)
NM_000466.3:c.3580_3581del (PEX1) MANE Select	NP_000457.1:p.Asp1194SerfsTer?
NM_001282677.2:c.3409_3410del (PEX1)	NP_001269606.1:p.Asp1137SerfsTer?
NM_001282678.2:c.2956_2957del (PEX1)	NP_001269607.1:p.Asp986SerfsTer?