Canonical Allele Identifier: CA1725951721

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522315_92522318delinsCTAT , CM000669.2:g.92522315_92522318delinsCTAT	GRCh38
NC_000007.13:g.92151629_92151632delinsCTAT , CM000669.1:g.92151629_92151632delinsCTAT	GRCh37
NC_000007.12:g.91989565_91989568delinsCTAT	NCBI36
NG_008341.1:g.11214_11217delinsATAG
NG_008341.2:g.11214_11217delinsATAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.130-73_130-70delinsATAG MANE Select	ENSP00000248633.4:n.130-73_130-70delinsAT...
ENST00000248633.8:c.130-73_130-70delinsATAG	ENSP00000248633.4:n.130-73_130-70delinsAT...
ENST00000428214.5:c.130-73_130-70delinsATAG	ENSP00000394413.1:n.130-73_130-70delinsAT...
ENST00000438045.5:c.130-73_130-70delinsATAG	ENSP00000410438.1:n.130-73_130-70delinsAT...
ENST00000484913.5:n.134-73_134-70delinsATAG
NM_000466.2:c.130-73_130-70delinsATAG	NP_000457.1:n.130-73_130-70delinsATAG
NM_001282677.1:c.130-73_130-70delinsATAG	NP_001269606.1:n.130-73_130-70delinsATAG
NM_001282678.1:c.-530-73_-530-70delinsATAG	NP_001269607.1:n.-530-73_-530-70delinsATA...
XR_242246.3:n.226-73_226-70delinsATAG
XR_242246.5:n.177-73_177-70delinsATAG
NM_000466.3:c.130-73_130-70delinsATAG MANE Select	NP_000457.1:n.130-73_130-70delinsATAG
NM_001282677.2:c.130-73_130-70delinsATAG	NP_001269606.1:n.130-73_130-70delinsATAG
NM_001282678.2:c.-530-73_-530-70delinsATAG	NP_001269607.1:n.-530-73_-530-70delinsATA...