Canonical Allele Identifier: CA1725928679

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491570_92491572delinsCAT , CM000669.2:g.92491570_92491572delinsCAT	GRCh38
NC_000007.13:g.92120884_92120886delinsCAT , CM000669.1:g.92120884_92120886delinsCAT	GRCh37
NC_000007.12:g.91958820_91958822delinsCAT	NCBI36
NG_008341.1:g.41960_41962delinsATG
NG_008341.2:g.41960_41962delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-70_3208-68delinsATG (PEX1) MANE Select	ENSP00000248633.4:n.3208-70_3208-68delinsATG
ENST00000248633.8:c.3208-70_3208-68delinsATG (PEX1)	ENSP00000248633.4:n.3208-70_3208-68delinsATG
ENST00000428214.5:c.3037-70_3037-68delinsATG (PEX1)	ENSP00000394413.1:n.3037-70_3037-68delinsATG
ENST00000438045.5:c.2242-70_2242-68delinsATG (PEX1)	ENSP00000410438.1:n.2242-70_2242-68delinsATG
ENST00000484913.5:n.3247-70_3247-68delinsATG (PEX1)
ENST00000496420.5:n.4263-70_4263-68delinsATG (PEX1)
NM_000466.2:c.3208-70_3208-68delinsATG (PEX1)	NP_000457.1:n.3208-70_3208-68delinsATG
NM_001282677.1:c.3037-70_3037-68delinsATG (PEX1)	NP_001269606.1:n.3037-70_3037-68delinsATG
NM_001282678.1:c.2584-70_2584-68delinsATG (PEX1)	NP_001269607.1:n.2584-70_2584-68delinsATG
XM_005250433.3:c.1459-70_1459-68delinsATG (PEX1)	XP_005250490.1:n.1459-70_1459-68delinsATG
XR_242246.3:n.3304-70_3304-68delinsATG (PEX1)
XM_017012319.2:c.1459-70_1459-68delinsATG (PEX1)	XP_016867808.1:n.1459-70_1459-68delinsATG
XR_001744808.2:n.2235-70_2235-68delinsATG (PEX1)
XR_001744842.2:n.2608_2610delinsCAT (GATAD1)
XR_001744843.2:n.2539_2541delinsCAT (GATAD1)
XR_002956472.1:n.2665_2667delinsCAT (GATAD1)
XR_002956473.1:n.2696_2698delinsCAT (GATAD1)
XR_002956474.1:n.2613_2615delinsCAT (GATAD1)
XR_242246.5:n.3255-70_3255-68delinsATG (PEX1)
XR_927494.3:n.1390_1392delinsCAT (GATAD1)
XR_927500.3:n.1387_1389delinsCAT (GATAD1)
XR_927503.3:n.1321_1323delinsCAT (GATAD1)
NM_000466.3:c.3208-70_3208-68delinsATG (PEX1) MANE Select	NP_000457.1:n.3208-70_3208-68delinsATG
NM_001282677.2:c.3037-70_3037-68delinsATG (PEX1)	NP_001269606.1:n.3037-70_3037-68delinsATG
NM_001282678.2:c.2584-70_2584-68delinsATG (PEX1)	NP_001269607.1:n.2584-70_2584-68delinsATG