Canonical Allele Identifier: CA1725948203

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1442533
• ClinVar RCV Id: RCV001953048
• dbSNP Id: rs1792878019
• gnomAD v4: 7-92517973-G-GTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517975_92517978dup , CM000669.2:g.92517975_92517978dup	GRCh38
NC_000007.13:g.92147289_92147292dup , CM000669.1:g.92147289_92147292dup	GRCh37
NC_000007.12:g.91985225_91985228dup	NCBI36
NG_008341.1:g.15555_15558dup
NG_008341.2:g.15555_15558dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.538_541dup MANE Select	ENSP00000248633.4:p.Thr181LysfsTer14
ENST00000248633.8:c.538_541dup	ENSP00000248633.4:p.Thr181LysfsTer14
ENST00000428214.5:c.538_541dup	ENSP00000394413.1:p.Thr181LysfsTer14
ENST00000438045.5:c.274-4010_274-4007dup	ENSP00000410438.1:n.274-4010_274-4007dup
ENST00000484913.5:n.577_580dup
NM_000466.2:c.538_541dup	NP_000457.1:p.Thr181LysfsTer14
NM_001282677.1:c.538_541dup	NP_001269606.1:p.Thr181LysfsTer14
NM_001282678.1:c.-87_-84dup	NP_001269607.1:n.-87_-84dup
XR_242246.3:n.634_637dup
XR_242246.5:n.585_588dup
NM_000466.3:c.538_541dup MANE Select	NP_000457.1:p.Thr181LysfsTer14
NM_001282677.2:c.538_541dup	NP_001269606.1:p.Thr181LysfsTer14
NM_001282678.2:c.-87_-84dup	NP_001269607.1:n.-87_-84dup