Canonical Allele Identifier: CA2578937909

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499748del , CM000669.2:g.92499748del	GRCh38
NC_000007.13:g.92129062del , CM000669.1:g.92129062del	GRCh37
NC_000007.12:g.91966998del	NCBI36
NG_008341.1:g.33787del
NG_008341.2:g.33787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2677del MANE Select	ENSP00000248633.4:p.Val893Ter
ENST00000248633.8:c.2677del	ENSP00000248633.4:p.Val893Ter
ENST00000428214.5:c.2506del	ENSP00000394413.1:p.Val836Ter
ENST00000438045.5:c.1711del	ENSP00000410438.1:p.Val571Ter
ENST00000484913.5:n.2716del
ENST00000496420.5:n.2569del
NM_000466.2:c.2677del	NP_000457.1:p.Val893Ter
NM_001282677.1:c.2506del	NP_001269606.1:p.Val836Ter
NM_001282678.1:c.2053del	NP_001269607.1:p.Val685Ter
XM_005250433.3:c.928del	XP_005250490.1:p.Val310Ter
XR_242246.3:n.2773del
XM_017012319.2:c.928del	XP_016867808.1:p.Val310Ter
XR_001744808.2:n.1704del
XR_242246.5:n.2724del
NM_000466.3:c.2677del MANE Select	NP_000457.1:p.Val893Ter
NM_001282677.2:c.2506del	NP_001269606.1:p.Val836Ter
NM_001282678.2:c.2053del	NP_001269607.1:p.Val685Ter