Canonical Allele Identifier: CA2776945357

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489486_92489487insA , CM000669.2:g.92489486_92489487insA	GRCh38
NC_000007.13:g.92118800_92118801insA , CM000669.1:g.92118800_92118801insA	GRCh37
NC_000007.12:g.91956736_91956737insA	NCBI36
NG_008341.1:g.44045_44046insT
NG_008341.2:g.44045_44046insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-64_3637-63insT (PEX1) MANE Select	ENSP00000248633.4:n.3637-64_3637-63insT
ENST00000248633.8:c.3637-64_3637-63insT (PEX1)	ENSP00000248633.4:n.3637-64_3637-63insT
ENST00000428214.5:c.3466-64_3466-63insT (PEX1)	ENSP00000394413.1:n.3466-64_3466-63insT
ENST00000438045.5:c.2671-64_2671-63insT (PEX1)	ENSP00000410438.1:n.2671-64_2671-63insT
ENST00000469417.1:n.534-64_534-63insT (PEX1)
ENST00000477342.1:n.308_309insT (PEX1)
ENST00000484913.5:n.3676-64_3676-63insT (PEX1)
ENST00000496420.5:n.4687-64_4687-63insT (PEX1)
NM_000466.2:c.3637-64_3637-63insT (PEX1)	NP_000457.1:n.3637-64_3637-63insT
NM_001282677.1:c.3466-64_3466-63insT (PEX1)	NP_001269606.1:n.3466-64_3466-63insT
NM_001282678.1:c.3013-64_3013-63insT (PEX1)	NP_001269607.1:n.3013-64_3013-63insT
XM_005250433.3:c.1888-64_1888-63insT (PEX1)	XP_005250490.1:n.1888-64_1888-63insT
XR_242246.3:n.3728-64_3728-63insT (PEX1)
XR_927494.1:n.1036-1757_1036-1756insA (GATAD1)
XR_927495.1:n.1036-600_1036-599insA (GATAD1)
XR_927496.1:n.1041-1757_1041-1756insA (GATAD1)
XR_927497.1:n.1036-600_1036-599insA (GATAD1)
XR_927498.1:n.1124-1757_1124-1756insA (GATAD1)
XR_927500.1:n.1033-1757_1033-1756insA (GATAD1)
XR_927502.1:n.1033-600_1033-599insA (GATAD1)
XR_927503.1:n.967-1757_967-1756insA (GATAD1)
XM_017012319.2:c.1888-64_1888-63insT (PEX1)	XP_016867808.1:n.1888-64_1888-63insT
XR_001744808.2:n.2659-64_2659-63insT (PEX1)
XR_001744842.2:n.2281-1757_2281-1756insA (GATAD1)
XR_001744843.2:n.2212-1757_2212-1756insA (GATAD1)
XR_002956472.1:n.2281-600_2281-599insA (GATAD1)
XR_002956473.1:n.2369-1757_2369-1756insA (GATAD1)
XR_002956474.1:n.2286-1757_2286-1756insA (GATAD1)
XR_242246.5:n.3679-64_3679-63insT (PEX1)
XR_927494.3:n.1063-1757_1063-1756insA (GATAD1)
XR_927500.3:n.1060-1757_1060-1756insA (GATAD1)
XR_927503.3:n.994-1757_994-1756insA (GATAD1)
NM_000466.3:c.3637-64_3637-63insT (PEX1) MANE Select	NP_000457.1:n.3637-64_3637-63insT
NM_001282677.2:c.3466-64_3466-63insT (PEX1)	NP_001269606.1:n.3466-64_3466-63insT
NM_001282678.2:c.3013-64_3013-63insT (PEX1)	NP_001269607.1:n.3013-64_3013-63insT