Canonical Allele Identifier: CA2776945366

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489499_92489500insA , CM000669.2:g.92489499_92489500insA	GRCh38
NC_000007.13:g.92118813_92118814insA , CM000669.1:g.92118813_92118814insA	GRCh37
NC_000007.12:g.91956749_91956750insA	NCBI36
NG_008341.1:g.44032_44033insT
NG_008341.2:g.44032_44033insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-77_3637-76insT (PEX1) MANE Select	ENSP00000248633.4:n.3637-77_3637-76insT
ENST00000248633.8:c.3637-77_3637-76insT (PEX1)	ENSP00000248633.4:n.3637-77_3637-76insT
ENST00000428214.5:c.3466-77_3466-76insT (PEX1)	ENSP00000394413.1:n.3466-77_3466-76insT
ENST00000438045.5:c.2671-77_2671-76insT (PEX1)	ENSP00000410438.1:n.2671-77_2671-76insT
ENST00000469417.1:n.534-77_534-76insT (PEX1)
ENST00000477342.1:n.295_296insT (PEX1)
ENST00000484913.5:n.3676-77_3676-76insT (PEX1)
ENST00000496420.5:n.4687-77_4687-76insT (PEX1)
NM_000466.2:c.3637-77_3637-76insT (PEX1)	NP_000457.1:n.3637-77_3637-76insT
NM_001282677.1:c.3466-77_3466-76insT (PEX1)	NP_001269606.1:n.3466-77_3466-76insT
NM_001282678.1:c.3013-77_3013-76insT (PEX1)	NP_001269607.1:n.3013-77_3013-76insT
XM_005250433.3:c.1888-77_1888-76insT (PEX1)	XP_005250490.1:n.1888-77_1888-76insT
XR_242246.3:n.3728-77_3728-76insT (PEX1)
XR_927494.1:n.1036-1744_1036-1743insA (GATAD1)
XR_927495.1:n.1036-587_1036-586insA (GATAD1)
XR_927496.1:n.1041-1744_1041-1743insA (GATAD1)
XR_927497.1:n.1036-587_1036-586insA (GATAD1)
XR_927498.1:n.1124-1744_1124-1743insA (GATAD1)
XR_927500.1:n.1033-1744_1033-1743insA (GATAD1)
XR_927502.1:n.1033-587_1033-586insA (GATAD1)
XR_927503.1:n.967-1744_967-1743insA (GATAD1)
XM_017012319.2:c.1888-77_1888-76insT (PEX1)	XP_016867808.1:n.1888-77_1888-76insT
XR_001744808.2:n.2659-77_2659-76insT (PEX1)
XR_001744842.2:n.2281-1744_2281-1743insA (GATAD1)
XR_001744843.2:n.2212-1744_2212-1743insA (GATAD1)
XR_002956472.1:n.2281-587_2281-586insA (GATAD1)
XR_002956473.1:n.2369-1744_2369-1743insA (GATAD1)
XR_002956474.1:n.2286-1744_2286-1743insA (GATAD1)
XR_242246.5:n.3679-77_3679-76insT (PEX1)
XR_927494.3:n.1063-1744_1063-1743insA (GATAD1)
XR_927500.3:n.1060-1744_1060-1743insA (GATAD1)
XR_927503.3:n.994-1744_994-1743insA (GATAD1)
NM_000466.3:c.3637-77_3637-76insT (PEX1) MANE Select	NP_000457.1:n.3637-77_3637-76insT
NM_001282677.2:c.3466-77_3466-76insT (PEX1)	NP_001269606.1:n.3466-77_3466-76insT
NM_001282678.2:c.3013-77_3013-76insT (PEX1)	NP_001269607.1:n.3013-77_3013-76insT