Canonical Allele Identifier: CA2683716730

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489530-T-TATGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489530_92489531insATGG , CM000669.2:g.92489530_92489531insATGG	GRCh38
NC_000007.13:g.92118844_92118845insATGG , CM000669.1:g.92118844_92118845insATGG	GRCh37
NC_000007.12:g.91956780_91956781insATGG	NCBI36
NG_008341.1:g.44001_44002insCCAT
NG_008341.2:g.44001_44002insCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-108_3637-107insCCAT (PEX1) MANE Select	ENSP00000248633.4:n.3637-108_3637-107insCCAT
ENST00000248633.8:c.3637-108_3637-107insCCAT (PEX1)	ENSP00000248633.4:n.3637-108_3637-107insCCAT
ENST00000428214.5:c.3466-108_3466-107insCCAT (PEX1)	ENSP00000394413.1:n.3466-108_3466-107insCCAT
ENST00000438045.5:c.2671-108_2671-107insCCAT (PEX1)	ENSP00000410438.1:n.2671-108_2671-107insCCAT
ENST00000469417.1:n.534-108_534-107insCCAT (PEX1)
ENST00000477342.1:n.264_265insCCAT (PEX1)
ENST00000484913.5:n.3676-108_3676-107insCCAT (PEX1)
ENST00000496420.5:n.4687-108_4687-107insCCAT (PEX1)
NM_000466.2:c.3637-108_3637-107insCCAT (PEX1)	NP_000457.1:n.3637-108_3637-107insCCAT
NM_001282677.1:c.3466-108_3466-107insCCAT (PEX1)	NP_001269606.1:n.3466-108_3466-107insCCAT
NM_001282678.1:c.3013-108_3013-107insCCAT (PEX1)	NP_001269607.1:n.3013-108_3013-107insCCAT
XM_005250433.3:c.1888-108_1888-107insCCAT (PEX1)	XP_005250490.1:n.1888-108_1888-107insCCAT
XR_242246.3:n.3728-108_3728-107insCCAT (PEX1)
XR_927494.1:n.1036-1713_1036-1712insATGG (GATAD1)
XR_927495.1:n.1036-556_1036-555insATGG (GATAD1)
XR_927496.1:n.1041-1713_1041-1712insATGG (GATAD1)
XR_927497.1:n.1036-556_1036-555insATGG (GATAD1)
XR_927498.1:n.1124-1713_1124-1712insATGG (GATAD1)
XR_927500.1:n.1033-1713_1033-1712insATGG (GATAD1)
XR_927502.1:n.1033-556_1033-555insATGG (GATAD1)
XR_927503.1:n.967-1713_967-1712insATGG (GATAD1)
XM_017012319.2:c.1888-108_1888-107insCCAT (PEX1)	XP_016867808.1:n.1888-108_1888-107insCCAT
XR_001744808.2:n.2659-108_2659-107insCCAT (PEX1)
XR_001744842.2:n.2281-1713_2281-1712insATGG (GATAD1)
XR_001744843.2:n.2212-1713_2212-1712insATGG (GATAD1)
XR_002956472.1:n.2281-556_2281-555insATGG (GATAD1)
XR_002956473.1:n.2369-1713_2369-1712insATGG (GATAD1)
XR_002956474.1:n.2286-1713_2286-1712insATGG (GATAD1)
XR_242246.5:n.3679-108_3679-107insCCAT (PEX1)
XR_927494.3:n.1063-1713_1063-1712insATGG (GATAD1)
XR_927500.3:n.1060-1713_1060-1712insATGG (GATAD1)
XR_927503.3:n.994-1713_994-1712insATGG (GATAD1)
NM_000466.3:c.3637-108_3637-107insCCAT (PEX1) MANE Select	NP_000457.1:n.3637-108_3637-107insCCAT
NM_001282677.2:c.3466-108_3466-107insCCAT (PEX1)	NP_001269606.1:n.3466-108_3466-107insCCAT
NM_001282678.2:c.3013-108_3013-107insCCAT (PEX1)	NP_001269607.1:n.3013-108_3013-107insCCAT