Canonical Allele Identifier: CA4340776

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1213583
• ClinVar RCV Id: RCV001581732
• dbSNP Id: rs200312888
• ExAC: 7:92118781 T / TA
• gnomAD v2: 7-92118781-T-TA
• gnomAD v3: 7-92489467-T-TA
• gnomAD v4: 7-92489467-T-TA
• MyVariant Identifiers: chr7:g.92118782_92118783insA (hg19) ; chr7:g.92118781_92118782insA (hg19) ; chr7:g.92489468_92489469insA (hg38) ; chr7:g.92489467_92489468insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489476dup , CM000669.2:g.92489476dup	GRCh38
NC_000007.13:g.92118790dup , CM000669.1:g.92118790dup	GRCh37
NC_000007.12:g.91956726dup	NCBI36
NG_008341.1:g.44064dup
NG_008341.2:g.44064dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-45dup (PEX1) MANE Select	ENSP00000248633.4:n.3637-45dup
ENST00000248633.8:c.3637-45dup (PEX1)	ENSP00000248633.4:n.3637-45dup
ENST00000428214.5:c.3466-45dup (PEX1)	ENSP00000394413.1:n.3466-45dup
ENST00000438045.5:c.2671-45dup (PEX1)	ENSP00000410438.1:n.2671-45dup
ENST00000469417.1:n.534-45dup (PEX1)
ENST00000477342.1:n.327dup (PEX1)
ENST00000484913.5:n.3676-45dup (PEX1)
ENST00000496420.5:n.4687-45dup (PEX1)
NM_000466.2:c.3637-45dup (PEX1)	NP_000457.1:n.3637-45dup
NM_001282677.1:c.3466-45dup (PEX1)	NP_001269606.1:n.3466-45dup
NM_001282678.1:c.3013-45dup (PEX1)	NP_001269607.1:n.3013-45dup
XM_005250433.3:c.1888-45dup (PEX1)	XP_005250490.1:n.1888-45dup
XR_242246.3:n.3728-45dup (PEX1)
XR_927494.1:n.1036-1767dup (GATAD1)
XR_927495.1:n.1036-610dup (GATAD1)
XR_927496.1:n.1041-1767dup (GATAD1)
XR_927497.1:n.1036-610dup (GATAD1)
XR_927498.1:n.1124-1767dup (GATAD1)
XR_927500.1:n.1033-1767dup (GATAD1)
XR_927502.1:n.1033-610dup (GATAD1)
XR_927503.1:n.967-1767dup (GATAD1)
XM_017012319.2:c.1888-45dup (PEX1)	XP_016867808.1:n.1888-45dup
XR_001744808.2:n.2659-45dup (PEX1)
XR_001744842.2:n.2281-1767dup (GATAD1)
XR_001744843.2:n.2212-1767dup (GATAD1)
XR_002956472.1:n.2281-610dup (GATAD1)
XR_002956473.1:n.2369-1767dup (GATAD1)
XR_002956474.1:n.2286-1767dup (GATAD1)
XR_242246.5:n.3679-45dup (PEX1)
XR_927494.3:n.1063-1767dup (GATAD1)
XR_927500.3:n.1060-1767dup (GATAD1)
XR_927503.3:n.994-1767dup (GATAD1)
NM_000466.3:c.3637-45dup (PEX1) MANE Select	NP_000457.1:n.3637-45dup
NM_001282677.2:c.3466-45dup (PEX1)	NP_001269606.1:n.3466-45dup
NM_001282678.2:c.3013-45dup (PEX1)	NP_001269607.1:n.3013-45dup