Canonical Allele Identifier: CA913127943

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92140309_92140315del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510995_92511001del , CM000669.2:g.92510995_92511001del	GRCh38
NC_000007.13:g.92140309_92140315del , CM000669.1:g.92140309_92140315del	GRCh37
NC_000007.12:g.91978245_91978251del	NCBI36
NG_008341.1:g.22535_22541del
NG_008341.2:g.22535_22541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1534_1540del MANE Select	ENSP00000248633.4:p.Asp512IlefsTer5
ENST00000248633.8:c.1534_1540del	ENSP00000248633.4:p.Asp512IlefsTer5
ENST00000422866.1:c.435_441del
ENST00000428214.5:c.1534_1540del	ENSP00000394413.1:p.Asp512IlefsTer5
ENST00000438045.5:c.568_574del	ENSP00000410438.1:p.Asp190IlefsTer5
ENST00000476923.1:n.295_301del
ENST00000484913.5:n.1573_1579del
NM_000466.2:c.1534_1540del	NP_000457.1:p.Asp512IlefsTer5
NM_001282677.1:c.1534_1540del	NP_001269606.1:p.Asp512IlefsTer5
NM_001282678.1:c.910_916del	NP_001269607.1:p.Asp304IlefsTer5
XM_005250433.3:c.-133_-127del	XP_005250490.1:n.-133_-127del
XR_242246.3:n.1630_1636del
XM_017012319.2:c.-133_-127del	XP_016867808.1:n.-133_-127del
XR_001744808.2:n.644_650del
XR_242246.5:n.1581_1587del
NM_000466.3:c.1534_1540del MANE Select	NP_000457.1:p.Asp512IlefsTer5
NM_001282677.2:c.1534_1540del	NP_001269606.1:p.Asp512IlefsTer5
NM_001282678.2:c.910_916del	NP_001269607.1:p.Asp304IlefsTer5