Canonical Allele Identifier: CA16041149

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 371706
• ClinVar RCV Id: RCV000409040 ; RCV000410568 ; RCV001861400 ; RCV002502433
• dbSNP Id: rs1057517472
• gnomAD v4: 7-92494553-T-TA
• MyVariant Identifiers: chr7:g.92123868dupA (hg19) ; chr7:g.92123867_92123868insA (hg19) ; chr7:g.92494554dupA (hg38) ; chr7:g.92494553_92494554insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494554dup , CM000669.2:g.92494554dup	GRCh38
NC_000007.13:g.92123868dup , CM000669.1:g.92123868dup	GRCh37
NC_000007.12:g.91961804dup	NCBI36
NG_008341.1:g.38978dup
NG_008341.2:g.38978dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2859dup (PEX1) MANE Select	ENSP00000248633.4:p.Thr954TyrfsTer9
ENST00000248633.8:c.2859dup (PEX1)	ENSP00000248633.4:p.Thr954TyrfsTer9
ENST00000428214.5:c.2688dup (PEX1)	ENSP00000394413.1:p.Thr897TyrfsTer9
ENST00000438045.5:c.1893dup (PEX1)	ENSP00000410438.1:p.Thr632TyrfsTer9
ENST00000484913.5:n.2898dup (PEX1)
ENST00000496420.5:n.2751dup (PEX1)
NM_000466.2:c.2859dup (PEX1)	NP_000457.1:p.Thr954TyrfsTer9
NM_001282677.1:c.2688dup (PEX1)	NP_001269606.1:p.Thr897TyrfsTer9
NM_001282678.1:c.2235dup (PEX1)	NP_001269607.1:p.Thr746TyrfsTer9
XM_005250433.3:c.1110dup (PEX1)	XP_005250490.1:p.Thr371TyrfsTer9
XR_242246.3:n.2955dup (PEX1)
XM_017012319.2:c.1110dup (PEX1)	XP_016867808.1:p.Thr371TyrfsTer9
XR_001744808.2:n.1886dup (PEX1)
XR_001744843.2:n.5523dup (GATAD1)
XR_242246.5:n.2906dup (PEX1)
XR_927494.3:n.4374dup (GATAD1)
XR_927503.3:n.4305dup (GATAD1)
NM_000466.3:c.2859dup (PEX1) MANE Select	NP_000457.1:p.Thr954TyrfsTer9
NM_001282677.2:c.2688dup (PEX1)	NP_001269606.1:p.Thr897TyrfsTer9
NM_001282678.2:c.2235dup (PEX1)	NP_001269607.1:p.Thr746TyrfsTer9