Canonical Allele Identifier: CA1104477122

Gene: PEX1

Linked Data

• dbSNP Id: rs1792900930
• gnomAD v3: 7-92518332-CT-C
• gnomAD v4: 7-92518332-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518339del , CM000669.2:g.92518339del	GRCh38
NC_000007.13:g.92147653del , CM000669.1:g.92147653del	GRCh37
NC_000007.12:g.91985589del	NCBI36
NG_008341.1:g.15199del
NG_008341.2:g.15199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-78del MANE Select	ENSP00000248633.4:n.358-78del
ENST00000248633.8:c.358-78del	ENSP00000248633.4:n.358-78del
ENST00000428214.5:c.358-78del	ENSP00000394413.1:n.358-78del
ENST00000438045.5:c.273+3769del	ENSP00000410438.1:n.273+3769del
ENST00000484913.5:n.397-78del
NM_000466.2:c.358-78del	NP_000457.1:n.358-78del
NM_001282677.1:c.358-78del	NP_001269606.1:n.358-78del
NM_001282678.1:c.-267-78del	NP_001269607.1:n.-267-78del
XR_242246.3:n.454-78del
XR_242246.5:n.405-78del
NM_000466.3:c.358-78del MANE Select	NP_000457.1:n.358-78del
NM_001282677.2:c.358-78del	NP_001269606.1:n.358-78del
NM_001282678.2:c.-267-78del	NP_001269607.1:n.-267-78del