Canonical Allele Identifier: CA1725931363

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494490_92494491delinsGT , CM000669.2:g.92494490_92494491delinsGT	GRCh38
NC_000007.13:g.92123804_92123805delinsGT , CM000669.1:g.92123804_92123805delinsGT	GRCh37
NC_000007.12:g.91961740_91961741delinsGT	NCBI36
NG_008341.1:g.39041_39042delinsAC
NG_008341.2:g.39041_39042delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2922_2923delinsAC (PEX1) MANE Select	ENSP00000248633.4:p.Leu974=
ENST00000248633.8:c.2922_2923delinsAC (PEX1)	ENSP00000248633.4:p.Leu974=
ENST00000428214.5:c.2751_2752delinsAC (PEX1)	ENSP00000394413.1:p.Leu917=
ENST00000438045.5:c.1956_1957delinsAC (PEX1)	ENSP00000410438.1:p.Leu652=
ENST00000484913.5:n.2961_2962delinsAC (PEX1)
ENST00000496420.5:n.2814_2815delinsAC (PEX1)
NM_000466.2:c.2922_2923delinsAC (PEX1)	NP_000457.1:p.Leu974=
NM_001282677.1:c.2751_2752delinsAC (PEX1)	NP_001269606.1:p.Leu917=
NM_001282678.1:c.2298_2299delinsAC (PEX1)	NP_001269607.1:p.Leu766=
XM_005250433.3:c.1173_1174delinsAC (PEX1)	XP_005250490.1:p.Leu391=
XR_242246.3:n.3018_3019delinsAC (PEX1)
XM_017012319.2:c.1173_1174delinsAC (PEX1)	XP_016867808.1:p.Leu391=
XR_001744808.2:n.1949_1950delinsAC (PEX1)
XR_001744843.2:n.5459_5460delinsGT (GATAD1)
XR_242246.5:n.2969_2970delinsAC (PEX1)
XR_927494.3:n.4310_4311delinsGT (GATAD1)
XR_927503.3:n.4241_4242delinsGT (GATAD1)
NM_000466.3:c.2922_2923delinsAC (PEX1) MANE Select	NP_000457.1:p.Leu974=
NM_001282677.2:c.2751_2752delinsAC (PEX1)	NP_001269606.1:p.Leu917=
NM_001282678.2:c.2298_2299delinsAC (PEX1)	NP_001269607.1:p.Leu766=