Canonical Allele Identifier: CA918073933

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2013179
• ClinVar RCV Id: RCV002834478
• dbSNP Id: rs61750426
• gnomAD v4: 7-92494496-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494497_92494498dup , CM000669.2:g.92494497_92494498dup	GRCh38
NC_000007.13:g.92123811_92123812dup , CM000669.1:g.92123811_92123812dup	GRCh37
NC_000007.12:g.91961747_91961748dup	NCBI36
NG_008341.1:g.39034_39035dup
NG_008341.2:g.39034_39035dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2915_2916dup (PEX1) MANE Select	ENSP00000248633.4:p.Gly973LysfsTer17
ENST00000248633.8:c.2915_2916dup (PEX1)	ENSP00000248633.4:p.Gly973LysfsTer17
ENST00000428214.5:c.2744_2745dup (PEX1)	ENSP00000394413.1:p.Gly916LysfsTer17
ENST00000438045.5:c.1949_1950dup (PEX1)	ENSP00000410438.1:p.Gly651LysfsTer17
ENST00000484913.5:n.2954_2955dup (PEX1)
ENST00000496420.5:n.2807_2808dup (PEX1)
NM_000466.2:c.2915_2916dup (PEX1)	NP_000457.1:p.Gly973LysfsTer17
NM_001282677.1:c.2744_2745dup (PEX1)	NP_001269606.1:p.Gly916LysfsTer17
NM_001282678.1:c.2291_2292dup (PEX1)	NP_001269607.1:p.Gly765LysfsTer17
XM_005250433.3:c.1166_1167dup (PEX1)	XP_005250490.1:p.Gly390LysfsTer17
XR_242246.3:n.3011_3012dup (PEX1)
XM_017012319.2:c.1166_1167dup (PEX1)	XP_016867808.1:p.Gly390LysfsTer17
XR_001744808.2:n.1942_1943dup (PEX1)
XR_001744843.2:n.5466_5467dup (GATAD1)
XR_242246.5:n.2962_2963dup (PEX1)
XR_927494.3:n.4317_4318dup (GATAD1)
XR_927503.3:n.4248_4249dup (GATAD1)
NM_000466.3:c.2915_2916dup (PEX1) MANE Select	NP_000457.1:p.Gly973LysfsTer17
NM_001282677.2:c.2744_2745dup (PEX1)	NP_001269606.1:p.Gly916LysfsTer17
NM_001282678.2:c.2291_2292dup (PEX1)	NP_001269607.1:p.Gly765LysfsTer17