Canonical Allele Identifier: CA2697557384

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2700719
• ClinVar RCV Id: RCV003594891

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494552_92494553dup , CM000669.2:g.92494552_92494553dup	GRCh38
NC_000007.13:g.92123866_92123867dup , CM000669.1:g.92123866_92123867dup	GRCh37
NC_000007.12:g.91961802_91961803dup	NCBI36
NG_008341.1:g.38980_38981dup
NG_008341.2:g.38980_38981dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2861_2862dup (PEX1) MANE Select	ENSP00000248633.4:p.Gly955GlnfsTer7
ENST00000248633.8:c.2861_2862dup (PEX1)	ENSP00000248633.4:p.Gly955GlnfsTer7
ENST00000428214.5:c.2690_2691dup (PEX1)	ENSP00000394413.1:p.Gly898GlnfsTer7
ENST00000438045.5:c.1895_1896dup (PEX1)	ENSP00000410438.1:p.Gly633GlnfsTer7
ENST00000484913.5:n.2900_2901dup (PEX1)
ENST00000496420.5:n.2753_2754dup (PEX1)
NM_000466.2:c.2861_2862dup (PEX1)	NP_000457.1:p.Gly955GlnfsTer7
NM_001282677.1:c.2690_2691dup (PEX1)	NP_001269606.1:p.Gly898GlnfsTer7
NM_001282678.1:c.2237_2238dup (PEX1)	NP_001269607.1:p.Gly747GlnfsTer7
XM_005250433.3:c.1112_1113dup (PEX1)	XP_005250490.1:p.Gly372GlnfsTer7
XR_242246.3:n.2957_2958dup (PEX1)
XM_017012319.2:c.1112_1113dup (PEX1)	XP_016867808.1:p.Gly372GlnfsTer7
XR_001744808.2:n.1888_1889dup (PEX1)
XR_001744843.2:n.5521_5522dup (GATAD1)
XR_242246.5:n.2908_2909dup (PEX1)
XR_927494.3:n.4372_4373dup (GATAD1)
XR_927503.3:n.4303_4304dup (GATAD1)
NM_000466.3:c.2861_2862dup (PEX1) MANE Select	NP_000457.1:p.Gly955GlnfsTer7
NM_001282677.2:c.2690_2691dup (PEX1)	NP_001269606.1:p.Gly898GlnfsTer7
NM_001282678.2:c.2237_2238dup (PEX1)	NP_001269607.1:p.Gly747GlnfsTer7