Canonical Allele Identifier: CA918074023

Gene: PEX1

Linked Data

• dbSNP Id: rs869282850

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504844_92504850del , CM000669.2:g.92504844_92504850del	GRCh38
NC_000007.13:g.92134158_92134164del , CM000669.1:g.92134158_92134164del	GRCh37
NC_000007.12:g.91972094_91972100del	NCBI36
NG_008341.1:g.28683_28689del
NG_008341.2:g.28683_28689del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1954_1960del MANE Select	ENSP00000248633.4:p.Val652CysfsTer?
ENST00000248633.8:c.1954_1960del	ENSP00000248633.4:p.Val652CysfsTer?
ENST00000428214.5:c.1900+1399_1900+1405del	ENSP00000394413.1:n.1900+1399_1900+1405del
ENST00000438045.5:c.988_994del	ENSP00000410438.1:p.Val330CysfsTer?
ENST00000484913.5:n.1993_1999del
ENST00000496420.5:n.1630_1636del
NM_000466.2:c.1954_1960del	NP_000457.1:p.Val652CysfsTer?
NM_001282677.1:c.1900+1399_1900+1405del	NP_001269606.1:n.1900+1399_1900+1405del
NM_001282678.1:c.1330_1336del	NP_001269607.1:p.Val444CysfsTer?
XM_005250433.3:c.205_211del	XP_005250490.1:p.Val69CysfsTer?
XR_242246.3:n.2050_2056del
XM_017012319.2:c.205_211del	XP_016867808.1:p.Val69CysfsTer?
XR_001744808.2:n.981_987del
XR_242246.5:n.2001_2007del
NM_000466.3:c.1954_1960del MANE Select	NP_000457.1:p.Val652CysfsTer?
NM_001282677.2:c.1900+1399_1900+1405del	NP_001269606.1:n.1900+1399_1900+1405del
NM_001282678.2:c.1330_1336del	NP_001269607.1:p.Val444CysfsTer?