Canonical Allele Identifier: CA1725927253

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489923_92489925delinsATT , CM000669.2:g.92489923_92489925delinsATT	GRCh38
NC_000007.13:g.92119237_92119239delinsATT , CM000669.1:g.92119237_92119239delinsATT	GRCh37
NC_000007.12:g.91957173_91957175delinsATT	NCBI36
NG_008341.1:g.43607_43609delinsAAT
NG_008341.2:g.43607_43609delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3439-14_3439-12delinsAAT (PEX1) MANE Select	ENSP00000248633.4:n.3439-14_3439-12delinsAAT
ENST00000248633.8:c.3439-14_3439-12delinsAAT (PEX1)	ENSP00000248633.4:n.3439-14_3439-12delinsAAT
ENST00000428214.5:c.3268-14_3268-12delinsAAT (PEX1)	ENSP00000394413.1:n.3268-14_3268-12delinsAAT
ENST00000438045.5:c.2473-14_2473-12delinsAAT (PEX1)	ENSP00000410438.1:n.2473-14_2473-12delinsAAT
ENST00000469417.1:n.322_324delinsAAT (PEX1)
ENST00000484913.5:n.3478-14_3478-12delinsAAT (PEX1)
ENST00000496420.5:n.4494-14_4494-12delinsAAT (PEX1)
NM_000466.2:c.3439-14_3439-12delinsAAT (PEX1)	NP_000457.1:n.3439-14_3439-12delinsAAT
NM_001282677.1:c.3268-14_3268-12delinsAAT (PEX1)	NP_001269606.1:n.3268-14_3268-12delinsAAT
NM_001282678.1:c.2815-14_2815-12delinsAAT (PEX1)	NP_001269607.1:n.2815-14_2815-12delinsAAT
XM_005250433.3:c.1690-14_1690-12delinsAAT (PEX1)	XP_005250490.1:n.1690-14_1690-12delinsAAT
XR_242246.3:n.3535-14_3535-12delinsAAT (PEX1)
XR_927494.1:n.1036-1320_1036-1318delinsATT (GATAD1)
XR_927495.1:n.1036-163_1036-161delinsATT (GATAD1)
XR_927496.1:n.1041-1320_1041-1318delinsATT (GATAD1)
XR_927497.1:n.1036-163_1036-161delinsATT (GATAD1)
XR_927498.1:n.1124-1320_1124-1318delinsATT (GATAD1)
XR_927500.1:n.1033-1320_1033-1318delinsATT (GATAD1)
XR_927502.1:n.1033-163_1033-161delinsATT (GATAD1)
XR_927503.1:n.967-1320_967-1318delinsATT (GATAD1)
XM_017012319.2:c.1690-14_1690-12delinsAAT (PEX1)	XP_016867808.1:n.1690-14_1690-12delinsAAT
XR_001744808.2:n.2466-14_2466-12delinsAAT (PEX1)
XR_001744842.2:n.2281-1320_2281-1318delinsATT (GATAD1)
XR_001744843.2:n.2212-1320_2212-1318delinsATT (GATAD1)
XR_002956472.1:n.2281-163_2281-161delinsATT (GATAD1)
XR_002956473.1:n.2369-1320_2369-1318delinsATT (GATAD1)
XR_002956474.1:n.2286-1320_2286-1318delinsATT (GATAD1)
XR_242246.5:n.3486-14_3486-12delinsAAT (PEX1)
XR_927494.3:n.1063-1320_1063-1318delinsATT (GATAD1)
XR_927500.3:n.1060-1320_1060-1318delinsATT (GATAD1)
XR_927503.3:n.994-1320_994-1318delinsATT (GATAD1)
NM_000466.3:c.3439-14_3439-12delinsAAT (PEX1) MANE Select	NP_000457.1:n.3439-14_3439-12delinsAAT
NM_001282677.2:c.3268-14_3268-12delinsAAT (PEX1)	NP_001269606.1:n.3268-14_3268-12delinsAAT
NM_001282678.2:c.2815-14_2815-12delinsAAT (PEX1)	NP_001269607.1:n.2815-14_2815-12delinsAAT