Canonical Allele Identifier: CA2573142462

Gene: PEX1

Linked Data

• dbSNP Id: rs2116165767

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504836_92504840del , CM000669.2:g.92504836_92504840del	GRCh38
NC_000007.13:g.92134150_92134154del , CM000669.1:g.92134150_92134154del	GRCh37
NC_000007.12:g.91972086_91972090del	NCBI36
NG_008341.1:g.28692_28696del
NG_008341.2:g.28692_28696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1963_1967del MANE Select	ENSP00000248633.4:p.Gln655IlefsTer7
ENST00000248633.8:c.1963_1967del	ENSP00000248633.4:p.Gln655IlefsTer7
ENST00000428214.5:c.1900+1408_1900+1412del	ENSP00000394413.1:n.1900+1408_1900+1412del
ENST00000438045.5:c.997_1001del	ENSP00000410438.1:p.Gln333IlefsTer7
ENST00000484913.5:n.2002_2006del
ENST00000496420.5:n.1639_1643del
NM_000466.2:c.1963_1967del	NP_000457.1:p.Gln655IlefsTer7
NM_001282677.1:c.1900+1408_1900+1412del	NP_001269606.1:n.1900+1408_1900+1412del
NM_001282678.1:c.1339_1343del	NP_001269607.1:p.Gln447IlefsTer7
XM_005250433.3:c.214_218del	XP_005250490.1:p.Gln72IlefsTer7
XR_242246.3:n.2059_2063del
XM_017012319.2:c.214_218del	XP_016867808.1:p.Gln72IlefsTer7
XR_001744808.2:n.990_994del
XR_242246.5:n.2010_2014del
NM_000466.3:c.1963_1967del MANE Select	NP_000457.1:p.Gln655IlefsTer7
NM_001282677.2:c.1900+1408_1900+1412del	NP_001269606.1:n.1900+1408_1900+1412del
NM_001282678.2:c.1339_1343del	NP_001269607.1:p.Gln447IlefsTer7