Canonical Allele Identifier: CA2739265469

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2829726
• ClinVar RCV Id: RCV003758239

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517621del , CM000669.2:g.92517621del	GRCh38
NC_000007.13:g.92146935del , CM000669.1:g.92146935del	GRCh37
NC_000007.12:g.91984871del	NCBI36
NG_008341.1:g.15911del
NG_008341.2:g.15911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.894del MANE Select	ENSP00000248633.4:p.Tyr298Ter
ENST00000248633.8:c.894del	ENSP00000248633.4:p.Tyr298Ter
ENST00000428214.5:c.894del	ENSP00000394413.1:p.Tyr298Ter
ENST00000438045.5:c.274-3654del	ENSP00000410438.1:n.274-3654del
ENST00000484913.5:n.933del
NM_000466.2:c.894del	NP_000457.1:p.Tyr298Ter
NM_001282677.1:c.894del	NP_001269606.1:p.Tyr298Ter
NM_001282678.1:c.270del	NP_001269607.1:p.Tyr90Ter
XR_242246.3:n.990del
XM_017012319.2:c.-773del	XP_016867808.1:n.-773del
XR_001744808.2:n.4del
XR_242246.5:n.941del
NM_000466.3:c.894del MANE Select	NP_000457.1:p.Tyr298Ter
NM_001282677.2:c.894del	NP_001269606.1:p.Tyr298Ter
NM_001282678.2:c.270del	NP_001269607.1:p.Tyr90Ter