Canonical Allele Identifier: CA2695238644

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522201del , CM000669.2:g.92522201del	GRCh38
NC_000007.13:g.92151515del , CM000669.1:g.92151515del	GRCh37
NC_000007.12:g.91989451del	NCBI36
NG_008341.1:g.11331del
NG_008341.2:g.11331del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.174del MANE Select	ENSP00000248633.4:p.Ser59AlafsTer?
ENST00000248633.8:c.174del	ENSP00000248633.4:p.Ser59AlafsTer?
ENST00000428214.5:c.174del	ENSP00000394413.1:p.Ser59AlafsTer?
ENST00000438045.5:c.174del	ENSP00000410438.1:p.Ser59AlafsTer?
ENST00000484913.5:n.178del
NM_000466.2:c.174del	NP_000457.1:p.Ser59AlafsTer?
NM_001282677.1:c.174del	NP_001269606.1:p.Ser59AlafsTer?
NM_001282678.1:c.-486del	NP_001269607.1:n.-486del
XR_242246.3:n.270del
XR_242246.5:n.221del
NM_000466.3:c.174del MANE Select	NP_000457.1:p.Ser59AlafsTer?
NM_001282677.2:c.174del	NP_001269606.1:p.Ser59AlafsTer?
NM_001282678.2:c.-486del	NP_001269607.1:n.-486del