Canonical Allele Identifier: CA2776946241

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502035_92502036del , CM000669.2:g.92502035_92502036del	GRCh38
NC_000007.13:g.92131349_92131350del , CM000669.1:g.92131349_92131350del	GRCh37
NC_000007.12:g.91969285_91969286del	NCBI36
NG_008341.1:g.31496_31497del
NG_008341.2:g.31496_31497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2270_2271del MANE Select	ENSP00000248633.4:p.Leu757Ter
ENST00000248633.8:c.2270_2271del	ENSP00000248633.4:p.Leu757Ter
ENST00000428214.5:c.2099_2100del	ENSP00000394413.1:p.Leu700Ter
ENST00000438045.5:c.1304_1305del	ENSP00000410438.1:p.Leu435Ter
ENST00000484913.5:n.2309_2310del
ENST00000496092.1:n.68_69del
ENST00000496420.5:n.1946_1947del
NM_000466.2:c.2270_2271del	NP_000457.1:p.Leu757Ter
NM_001282677.1:c.2099_2100del	NP_001269606.1:p.Leu700Ter
NM_001282678.1:c.1646_1647del	NP_001269607.1:p.Leu549Ter
XM_005250433.3:c.521_522del	XP_005250490.1:p.Leu174Ter
XR_242246.3:n.2366_2367del
XM_017012319.2:c.521_522del	XP_016867808.1:p.Leu174Ter
XR_001744808.2:n.1297_1298del
XR_242246.5:n.2317_2318del
NM_000466.3:c.2270_2271del MANE Select	NP_000457.1:p.Leu757Ter
NM_001282677.2:c.2099_2100del	NP_001269606.1:p.Leu700Ter
NM_001282678.2:c.1646_1647del	NP_001269607.1:p.Leu549Ter