Canonical Allele Identifier: CA2521284333

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510831_92510838del , CM000669.2:g.92510831_92510838del	GRCh38
NC_000007.13:g.92140145_92140152del , CM000669.1:g.92140145_92140152del	GRCh37
NC_000007.12:g.91978081_91978088del	NCBI36
NG_008341.1:g.22696_22703del
NG_008341.2:g.22696_22703del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1587+108_1587+115del MANE Select	ENSP00000248633.4:n.1587+108_1587+115del
ENST00000248633.8:c.1587+108_1587+115del	ENSP00000248633.4:n.1587+108_1587+115del
ENST00000422866.1:c.488+108_488+115del
ENST00000428214.5:c.1587+108_1587+115del	ENSP00000394413.1:n.1587+108_1587+115del
ENST00000438045.5:c.621+108_621+115del	ENSP00000410438.1:n.621+108_621+115del
ENST00000484913.5:n.1626+108_1626+115del
NM_000466.2:c.1587+108_1587+115del	NP_000457.1:n.1587+108_1587+115del
NM_001282677.1:c.1587+108_1587+115del	NP_001269606.1:n.1587+108_1587+115del
NM_001282678.1:c.963+108_963+115del	NP_001269607.1:n.963+108_963+115del
XM_005250433.3:c.-80+108_-80+115del	XP_005250490.1:n.-80+108_-80+115del
XR_242246.3:n.1683+108_1683+115del
XM_017012319.2:c.-80+108_-80+115del	XP_016867808.1:n.-80+108_-80+115del
XR_001744808.2:n.697+108_697+115del
XR_242246.5:n.1634+108_1634+115del
NM_000466.3:c.1587+108_1587+115del MANE Select	NP_000457.1:n.1587+108_1587+115del
NM_001282677.2:c.1587+108_1587+115del	NP_001269606.1:n.1587+108_1587+115del
NM_001282678.2:c.963+108_963+115del	NP_001269607.1:n.963+108_963+115del