Canonical Allele Identifier: CA2578937878

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496716del , CM000669.2:g.92496716del	GRCh38
NC_000007.13:g.92126030del , CM000669.1:g.92126030del	GRCh37
NC_000007.12:g.91963966del	NCBI36
NG_008341.1:g.36817del
NG_008341.2:g.36817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2781del MANE Select	ENSP00000248633.4:p.Arg928GlufsTer?
ENST00000248633.8:c.2781del	ENSP00000248633.4:p.Arg928GlufsTer?
ENST00000428214.5:c.2610del	ENSP00000394413.1:p.Arg871GlufsTer?
ENST00000438045.5:c.1815del	ENSP00000410438.1:p.Arg606GlufsTer?
ENST00000484913.5:n.2820del
ENST00000496420.5:n.2673del
NM_000466.2:c.2781del	NP_000457.1:p.Arg928GlufsTer?
NM_001282677.1:c.2610del	NP_001269606.1:p.Arg871GlufsTer?
NM_001282678.1:c.2157del	NP_001269607.1:p.Arg720GlufsTer?
XM_005250433.3:c.1032del	XP_005250490.1:p.Arg345GlufsTer?
XR_242246.3:n.2877del
XM_017012319.2:c.1032del	XP_016867808.1:p.Arg345GlufsTer?
XR_001744808.2:n.1808del
XR_242246.5:n.2828del
NM_000466.3:c.2781del MANE Select	NP_000457.1:p.Arg928GlufsTer?
NM_001282677.2:c.2610del	NP_001269606.1:p.Arg871GlufsTer?
NM_001282678.2:c.2157del	NP_001269607.1:p.Arg720GlufsTer?