Canonical Allele Identifier: CA2683720495

Gene: PEX1

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511025del , CM000669.2:g.92511025del	GRCh38
NC_000007.13:g.92140339del , CM000669.1:g.92140339del	GRCh37
NC_000007.12:g.91978275del	NCBI36
NG_008341.1:g.22507del
NG_008341.2:g.22507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1506del MANE Select	ENSP00000248633.4:p.Ser502ArgfsTer2
ENST00000248633.8:c.1506del	ENSP00000248633.4:p.Ser502ArgfsTer2
ENST00000422866.1:c.407del
ENST00000428214.5:c.1506del	ENSP00000394413.1:p.Ser502ArgfsTer2
ENST00000438045.5:c.540del	ENSP00000410438.1:p.Ser180ArgfsTer2
ENST00000476923.1:n.267del
ENST00000484913.5:n.1545del
NM_000466.2:c.1506del	NP_000457.1:p.Ser502ArgfsTer2
NM_001282677.1:c.1506del	NP_001269606.1:p.Ser502ArgfsTer2
NM_001282678.1:c.882del	NP_001269607.1:p.Ser294ArgfsTer2
XM_005250433.3:c.-161del	XP_005250490.1:n.-161del
XR_242246.3:n.1602del
XM_017012319.2:c.-161del	XP_016867808.1:n.-161del
XR_001744808.2:n.616del
XR_242246.5:n.1553del
NM_000466.3:c.1506del MANE Select	NP_000457.1:p.Ser502ArgfsTer2
NM_001282677.2:c.1506del	NP_001269606.1:p.Ser502ArgfsTer2
NM_001282678.2:c.882del	NP_001269607.1:p.Ser294ArgfsTer2