Canonical Allele Identifier: CA2776945601

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491618_92491619insG , CM000669.2:g.92491618_92491619insG	GRCh38
NC_000007.13:g.92120932_92120933insG , CM000669.1:g.92120932_92120933insG	GRCh37
NC_000007.12:g.91958868_91958869insG	NCBI36
NG_008341.1:g.41913_41914insC
NG_008341.2:g.41913_41914insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-117_3208-116insC (PEX1) MANE Select	ENSP00000248633.4:n.3208-117_3208-116insC
ENST00000248633.8:c.3208-117_3208-116insC (PEX1)	ENSP00000248633.4:n.3208-117_3208-116insC
ENST00000428214.5:c.3037-117_3037-116insC (PEX1)	ENSP00000394413.1:n.3037-117_3037-116insC
ENST00000438045.5:c.2242-117_2242-116insC (PEX1)	ENSP00000410438.1:n.2242-117_2242-116insC
ENST00000484913.5:n.3247-117_3247-116insC (PEX1)
ENST00000496420.5:n.4263-117_4263-116insC (PEX1)
NM_000466.2:c.3208-117_3208-116insC (PEX1)	NP_000457.1:n.3208-117_3208-116insC
NM_001282677.1:c.3037-117_3037-116insC (PEX1)	NP_001269606.1:n.3037-117_3037-116insC
NM_001282678.1:c.2584-117_2584-116insC (PEX1)	NP_001269607.1:n.2584-117_2584-116insC
XM_005250433.3:c.1459-117_1459-116insC (PEX1)	XP_005250490.1:n.1459-117_1459-116insC
XR_242246.3:n.3304-117_3304-116insC (PEX1)
XM_017012319.2:c.1459-117_1459-116insC (PEX1)	XP_016867808.1:n.1459-117_1459-116insC
XR_001744808.2:n.2235-117_2235-116insC (PEX1)
XR_001744842.2:n.2656_2657insG (GATAD1)
XR_001744843.2:n.2587_2588insG (GATAD1)
XR_002956472.1:n.2713_2714insG (GATAD1)
XR_002956473.1:n.2744_2745insG (GATAD1)
XR_002956474.1:n.2661_2662insG (GATAD1)
XR_242246.5:n.3255-117_3255-116insC (PEX1)
XR_927494.3:n.1438_1439insG (GATAD1)
XR_927500.3:n.1435_1436insG (GATAD1)
XR_927503.3:n.1369_1370insG (GATAD1)
NM_000466.3:c.3208-117_3208-116insC (PEX1) MANE Select	NP_000457.1:n.3208-117_3208-116insC
NM_001282677.2:c.3037-117_3037-116insC (PEX1)	NP_001269606.1:n.3037-117_3037-116insC
NM_001282678.2:c.2584-117_2584-116insC (PEX1)	NP_001269607.1:n.2584-117_2584-116insC