Canonical Allele Identifier: CA2776945380

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489506_92489507insAGA , CM000669.2:g.92489506_92489507insAGA	GRCh38
NC_000007.13:g.92118820_92118821insAGA , CM000669.1:g.92118820_92118821insAGA	GRCh37
NC_000007.12:g.91956756_91956757insAGA	NCBI36
NG_008341.1:g.44025_44026insTCT
NG_008341.2:g.44025_44026insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-84_3637-83insTCT (PEX1) MANE Select	ENSP00000248633.4:n.3637-84_3637-83insTCT
ENST00000248633.8:c.3637-84_3637-83insTCT (PEX1)	ENSP00000248633.4:n.3637-84_3637-83insTCT
ENST00000428214.5:c.3466-84_3466-83insTCT (PEX1)	ENSP00000394413.1:n.3466-84_3466-83insTCT
ENST00000438045.5:c.2671-84_2671-83insTCT (PEX1)	ENSP00000410438.1:n.2671-84_2671-83insTCT
ENST00000469417.1:n.534-84_534-83insTCT (PEX1)
ENST00000477342.1:n.288_289insTCT (PEX1)
ENST00000484913.5:n.3676-84_3676-83insTCT (PEX1)
ENST00000496420.5:n.4687-84_4687-83insTCT (PEX1)
NM_000466.2:c.3637-84_3637-83insTCT (PEX1)	NP_000457.1:n.3637-84_3637-83insTCT
NM_001282677.1:c.3466-84_3466-83insTCT (PEX1)	NP_001269606.1:n.3466-84_3466-83insTCT
NM_001282678.1:c.3013-84_3013-83insTCT (PEX1)	NP_001269607.1:n.3013-84_3013-83insTCT
XM_005250433.3:c.1888-84_1888-83insTCT (PEX1)	XP_005250490.1:n.1888-84_1888-83insTCT
XR_242246.3:n.3728-84_3728-83insTCT (PEX1)
XR_927494.1:n.1036-1737_1036-1736insAGA (GATAD1)
XR_927495.1:n.1036-580_1036-579insAGA (GATAD1)
XR_927496.1:n.1041-1737_1041-1736insAGA (GATAD1)
XR_927497.1:n.1036-580_1036-579insAGA (GATAD1)
XR_927498.1:n.1124-1737_1124-1736insAGA (GATAD1)
XR_927500.1:n.1033-1737_1033-1736insAGA (GATAD1)
XR_927502.1:n.1033-580_1033-579insAGA (GATAD1)
XR_927503.1:n.967-1737_967-1736insAGA (GATAD1)
XM_017012319.2:c.1888-84_1888-83insTCT (PEX1)	XP_016867808.1:n.1888-84_1888-83insTCT
XR_001744808.2:n.2659-84_2659-83insTCT (PEX1)
XR_001744842.2:n.2281-1737_2281-1736insAGA (GATAD1)
XR_001744843.2:n.2212-1737_2212-1736insAGA (GATAD1)
XR_002956472.1:n.2281-580_2281-579insAGA (GATAD1)
XR_002956473.1:n.2369-1737_2369-1736insAGA (GATAD1)
XR_002956474.1:n.2286-1737_2286-1736insAGA (GATAD1)
XR_242246.5:n.3679-84_3679-83insTCT (PEX1)
XR_927494.3:n.1063-1737_1063-1736insAGA (GATAD1)
XR_927500.3:n.1060-1737_1060-1736insAGA (GATAD1)
XR_927503.3:n.994-1737_994-1736insAGA (GATAD1)
NM_000466.3:c.3637-84_3637-83insTCT (PEX1) MANE Select	NP_000457.1:n.3637-84_3637-83insTCT
NM_001282677.2:c.3466-84_3466-83insTCT (PEX1)	NP_001269606.1:n.3466-84_3466-83insTCT
NM_001282678.2:c.3013-84_3013-83insTCT (PEX1)	NP_001269607.1:n.3013-84_3013-83insTCT