Canonical Allele Identifier: CA2695199574

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677605
• ClinVar RCV Id: RCV003476739

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519047_92519048delinsT , CM000669.2:g.92519047_92519048delinsT	GRCh38
NC_000007.13:g.92148361_92148362delinsT , CM000669.1:g.92148361_92148362delinsT	GRCh37
NC_000007.12:g.91986297_91986298delinsT	NCBI36
NG_008341.1:g.14484_14485delinsA
NG_008341.2:g.14484_14485delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.304_305delinsA MANE Select	ENSP00000248633.4:p.Ser102IlefsTer30
ENST00000248633.8:c.304_305delinsA	ENSP00000248633.4:p.Ser102IlefsTer30
ENST00000428214.5:c.304_305delinsA	ENSP00000394413.1:p.Ser102IlefsTer30
ENST00000438045.5:c.273+3054_273+3055delinsA	ENSP00000410438.1:n.273+3054_273+3055delinsA
ENST00000484913.5:n.308_309delinsA
NM_000466.2:c.304_305delinsA	NP_000457.1:p.Ser102IlefsTer30
NM_001282677.1:c.304_305delinsA	NP_001269606.1:p.Ser102IlefsTer30
NM_001282678.1:c.-356_-355delinsA	NP_001269607.1:n.-356_-355delinsA
XR_242246.3:n.400_401delinsA
XR_242246.5:n.351_352delinsA
NM_000466.3:c.304_305delinsA MANE Select	NP_000457.1:p.Ser102IlefsTer30
NM_001282677.2:c.304_305delinsA	NP_001269606.1:p.Ser102IlefsTer30
NM_001282678.2:c.-356_-355delinsA	NP_001269607.1:n.-356_-355delinsA