Canonical Allele Identifier: CA1725949104

Gene: PEX1

Linked Data

• dbSNP Id: rs1792923719
• gnomAD v3: 7-92518829-CAAAGTGCTGGGACTAT-C
• gnomAD v4: 7-92518829-CAAAGTGCTGGGACTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518831_92518846del , CM000669.2:g.92518831_92518846del	GRCh38
NC_000007.13:g.92148145_92148160del , CM000669.1:g.92148145_92148160del	GRCh37
NC_000007.12:g.91986081_91986096del	NCBI36
NG_008341.1:g.14687_14702del
NG_008341.2:g.14687_14702del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+150_357+165del MANE Select	ENSP00000248633.4:n.357+150_357+165del
ENST00000248633.8:c.357+150_357+165del	ENSP00000248633.4:n.357+150_357+165del
ENST00000428214.5:c.357+150_357+165del	ENSP00000394413.1:n.357+150_357+165del
ENST00000438045.5:c.273+3257_273+3272del	ENSP00000410438.1:n.273+3257_273+3272del
ENST00000484913.5:n.396+115_396+130del
NM_000466.2:c.357+150_357+165del	NP_000457.1:n.357+150_357+165del
NM_001282677.1:c.357+150_357+165del	NP_001269606.1:n.357+150_357+165del
NM_001282678.1:c.-268+115_-268+130del	NP_001269607.1:n.-268+115_-268+130del
XR_242246.3:n.453+150_453+165del
XR_242246.5:n.404+150_404+165del
NM_000466.3:c.357+150_357+165del MANE Select	NP_000457.1:n.357+150_357+165del
NM_001282677.2:c.357+150_357+165del	NP_001269606.1:n.357+150_357+165del
NM_001282678.2:c.-268+115_-268+130del	NP_001269607.1:n.-268+115_-268+130del