Canonical Allele Identifier: CA2580078165

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1725098
• ClinVar RCV Id: RCV002308157

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510978_92510979delinsT , CM000669.2:g.92510978_92510979delinsT	GRCh38
NC_000007.13:g.92140292_92140293delinsT , CM000669.1:g.92140292_92140293delinsT	GRCh37
NC_000007.12:g.91978228_91978229delinsT	NCBI36
NG_008341.1:g.22553_22554delinsA
NG_008341.2:g.22553_22554delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1552_1553delinsA MANE Select	ENSP00000248633.4:p.Leu518ArgfsTer15
ENST00000248633.8:c.1552_1553delinsA	ENSP00000248633.4:p.Leu518ArgfsTer15
ENST00000422866.1:c.453_454delinsA
ENST00000428214.5:c.1552_1553delinsA	ENSP00000394413.1:p.Leu518ArgfsTer15
ENST00000438045.5:c.586_587delinsA	ENSP00000410438.1:p.Leu196ArgfsTer15
ENST00000476923.1:n.313_314delinsA
ENST00000484913.5:n.1591_1592delinsA
NM_000466.2:c.1552_1553delinsA	NP_000457.1:p.Leu518ArgfsTer15
NM_001282677.1:c.1552_1553delinsA	NP_001269606.1:p.Leu518ArgfsTer15
NM_001282678.1:c.928_929delinsA	NP_001269607.1:p.Leu310ArgfsTer15
XM_005250433.3:c.-115_-114delinsA	XP_005250490.1:n.-115_-114delinsA
XR_242246.3:n.1648_1649delinsA
XM_017012319.2:c.-115_-114delinsA	XP_016867808.1:n.-115_-114delinsA
XR_001744808.2:n.662_663delinsA
XR_242246.5:n.1599_1600delinsA
NM_000466.3:c.1552_1553delinsA MANE Select	NP_000457.1:p.Leu518ArgfsTer15
NM_001282677.2:c.1552_1553delinsA	NP_001269606.1:p.Leu518ArgfsTer15
NM_001282678.2:c.928_929delinsA	NP_001269607.1:p.Leu310ArgfsTer15