Canonical Allele Identifier: CA1725946692

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510803_92510804delinsAT , CM000669.2:g.92510803_92510804delinsAT	GRCh38
NC_000007.13:g.92140117_92140118delinsAT , CM000669.1:g.92140117_92140118delinsAT	GRCh37
NC_000007.12:g.91978053_91978054delinsAT	NCBI36
NG_008341.1:g.22728_22729delinsAT
NG_008341.2:g.22728_22729delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1587+140_1587+141delinsAT MANE Select	ENSP00000248633.4:n.1587+140_1587+141delinsAT
ENST00000248633.8:c.1587+140_1587+141delinsAT	ENSP00000248633.4:n.1587+140_1587+141delinsAT
ENST00000422866.1:c.488+140_488+141delinsAT
ENST00000428214.5:c.1587+140_1587+141delinsAT	ENSP00000394413.1:n.1587+140_1587+141delinsAT
ENST00000438045.5:c.621+140_621+141delinsAT	ENSP00000410438.1:n.621+140_621+141delinsAT
ENST00000484913.5:n.1626+140_1626+141delinsAT
NM_000466.2:c.1587+140_1587+141delinsAT	NP_000457.1:n.1587+140_1587+141delinsAT
NM_001282677.1:c.1587+140_1587+141delinsAT	NP_001269606.1:n.1587+140_1587+141delinsAT
NM_001282678.1:c.963+140_963+141delinsAT	NP_001269607.1:n.963+140_963+141delinsAT
XM_005250433.3:c.-80+140_-80+141delinsAT	XP_005250490.1:n.-80+140_-80+141delinsAT
XR_242246.3:n.1683+140_1683+141delinsAT
XM_017012319.2:c.-80+140_-80+141delinsAT	XP_016867808.1:n.-80+140_-80+141delinsAT
XR_001744808.2:n.697+140_697+141delinsAT
XR_242246.5:n.1634+140_1634+141delinsAT
NM_000466.3:c.1587+140_1587+141delinsAT MANE Select	NP_000457.1:n.1587+140_1587+141delinsAT
NM_001282677.2:c.1587+140_1587+141delinsAT	NP_001269606.1:n.1587+140_1587+141delinsAT
NM_001282678.2:c.963+140_963+141delinsAT	NP_001269607.1:n.963+140_963+141delinsAT