Canonical Allele Identifier: CA2683721010

Gene: PEX1

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518932del , CM000669.2:g.92518932del	GRCh38
NC_000007.13:g.92148246del , CM000669.1:g.92148246del	GRCh37
NC_000007.12:g.91986182del	NCBI36
NG_008341.1:g.14602del
NG_008341.2:g.14602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.357+65del MANE Select	ENSP00000248633.4:n.357+65del
ENST00000248633.8:c.357+65del	ENSP00000248633.4:n.357+65del
ENST00000428214.5:c.357+65del	ENSP00000394413.1:n.357+65del
ENST00000438045.5:c.273+3172del	ENSP00000410438.1:n.273+3172del
ENST00000484913.5:n.396+30del
NM_000466.2:c.357+65del	NP_000457.1:n.357+65del
NM_001282677.1:c.357+65del	NP_001269606.1:n.357+65del
NM_001282678.1:c.-268+30del	NP_001269607.1:n.-268+30del
XR_242246.3:n.453+65del
XR_242246.5:n.404+65del
NM_000466.3:c.357+65del MANE Select	NP_000457.1:n.357+65del
NM_001282677.2:c.357+65del	NP_001269606.1:n.357+65del
NM_001282678.2:c.-268+30del	NP_001269607.1:n.-268+30del