Canonical Allele Identifier: CA1725946741

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510860_92510861delinsAG , CM000669.2:g.92510860_92510861delinsAG	GRCh38
NC_000007.13:g.92140174_92140175delinsAG , CM000669.1:g.92140174_92140175delinsAG	GRCh37
NC_000007.12:g.91978110_91978111delinsAG	NCBI36
NG_008341.1:g.22671_22672delinsCT
NG_008341.2:g.22671_22672delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1587+83_1587+84delinsCT MANE Select	ENSP00000248633.4:n.1587+83_1587+84delins...
ENST00000248633.8:c.1587+83_1587+84delinsCT	ENSP00000248633.4:n.1587+83_1587+84delins...
ENST00000422866.1:c.488+83_488+84delinsCT
ENST00000428214.5:c.1587+83_1587+84delinsCT	ENSP00000394413.1:n.1587+83_1587+84delins...
ENST00000438045.5:c.621+83_621+84delinsCT	ENSP00000410438.1:n.621+83_621+84delinsCT...
ENST00000484913.5:n.1626+83_1626+84delinsCT
NM_000466.2:c.1587+83_1587+84delinsCT	NP_000457.1:n.1587+83_1587+84delinsCT
NM_001282677.1:c.1587+83_1587+84delinsCT	NP_001269606.1:n.1587+83_1587+84delinsCT
NM_001282678.1:c.963+83_963+84delinsCT	NP_001269607.1:n.963+83_963+84delinsCT
XM_005250433.3:c.-80+83_-80+84delinsCT	XP_005250490.1:n.-80+83_-80+84delinsCT
XR_242246.3:n.1683+83_1683+84delinsCT
XM_017012319.2:c.-80+83_-80+84delinsCT	XP_016867808.1:n.-80+83_-80+84delinsCT
XR_001744808.2:n.697+83_697+84delinsCT
XR_242246.5:n.1634+83_1634+84delinsCT
NM_000466.3:c.1587+83_1587+84delinsCT MANE Select	NP_000457.1:n.1587+83_1587+84delinsCT
NM_001282677.2:c.1587+83_1587+84delinsCT	NP_001269606.1:n.1587+83_1587+84delinsCT
NM_001282678.2:c.963+83_963+84delinsCT	NP_001269607.1:n.963+83_963+84delinsCT