Canonical Allele Identifier: CA1725931789

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494709_92494714delinsATTTAT , CM000669.2:g.92494709_92494714delinsATTTAT	GRCh38
NC_000007.13:g.92124023_92124028delinsATTTAT , CM000669.1:g.92124023_92124028delinsATTTAT	GRCh37
NC_000007.12:g.91961959_91961964delinsATTTAT	NCBI36
NG_008341.1:g.38818_38823delinsATAAAT
NG_008341.2:g.38818_38823delinsATAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-85_2784-80delinsATAAAT MANE Select	ENSP00000248633.4:n.2784-85_2784-80delinsATAAAT
ENST00000248633.8:c.2784-85_2784-80delinsATAAAT	ENSP00000248633.4:n.2784-85_2784-80delinsATAAAT
ENST00000428214.5:c.2613-85_2613-80delinsATAAAT	ENSP00000394413.1:n.2613-85_2613-80delinsATAAAT
ENST00000438045.5:c.1818-85_1818-80delinsATAAAT	ENSP00000410438.1:n.1818-85_1818-80delinsATAAAT
ENST00000484913.5:n.2823-85_2823-80delinsATAAAT
ENST00000496420.5:n.2676-85_2676-80delinsATAAAT
NM_000466.2:c.2784-85_2784-80delinsATAAAT	NP_000457.1:n.2784-85_2784-80delinsATAAAT
NM_001282677.1:c.2613-85_2613-80delinsATAAAT	NP_001269606.1:n.2613-85_2613-80delinsATAAAT
NM_001282678.1:c.2160-85_2160-80delinsATAAAT	NP_001269607.1:n.2160-85_2160-80delinsATAAAT
XM_005250433.3:c.1035-85_1035-80delinsATAAAT	XP_005250490.1:n.1035-85_1035-80delinsATAAAT
XR_242246.3:n.2880-85_2880-80delinsATAAAT
XM_017012319.2:c.1035-85_1035-80delinsATAAAT	XP_016867808.1:n.1035-85_1035-80delinsATAAAT
XR_001744808.2:n.1811-85_1811-80delinsATAAAT
XR_242246.5:n.2831-85_2831-80delinsATAAAT
NM_000466.3:c.2784-85_2784-80delinsATAAAT MANE Select	NP_000457.1:n.2784-85_2784-80delinsATAAAT
NM_001282677.2:c.2613-85_2613-80delinsATAAAT	NP_001269606.1:n.2613-85_2613-80delinsATAAAT
NM_001282678.2:c.2160-85_2160-80delinsATAAAT	NP_001269607.1:n.2160-85_2160-80delinsATAAAT