Canonical Allele Identifier: CA2831039196

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503120del , CM000669.2:g.92503120del	GRCh38
NC_000007.13:g.92132434del , CM000669.1:g.92132434del	GRCh37
NC_000007.12:g.91970370del	NCBI36
NG_008341.1:g.30413del
NG_008341.2:g.30413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2148del MANE Select	ENSP00000248633.4:p.Gln716HisfsTer?
ENST00000248633.8:c.2148del	ENSP00000248633.4:p.Gln716HisfsTer?
ENST00000428214.5:c.1977del	ENSP00000394413.1:p.Gln659HisfsTer?
ENST00000438045.5:c.1182del	ENSP00000410438.1:p.Gln394HisfsTer?
ENST00000484913.5:n.2187del
ENST00000496420.5:n.1824del
NM_000466.2:c.2148del	NP_000457.1:p.Gln716HisfsTer?
NM_001282677.1:c.1977del	NP_001269606.1:p.Gln659HisfsTer?
NM_001282678.1:c.1524del	NP_001269607.1:p.Gln508HisfsTer?
XM_005250433.3:c.399del	XP_005250490.1:p.Gln133HisfsTer?
XR_242246.3:n.2244del
XM_017012319.2:c.399del	XP_016867808.1:p.Gln133HisfsTer?
XR_001744808.2:n.1175del
XR_242246.5:n.2195del
NM_000466.3:c.2148del MANE Select	NP_000457.1:p.Gln716HisfsTer?
NM_001282677.2:c.1977del	NP_001269606.1:p.Gln659HisfsTer?
NM_001282678.2:c.1524del	NP_001269607.1:p.Gln508HisfsTer?