Canonical Allele Identifier: CA1104488748

Gene: PEX1

Linked Data

• dbSNP Id: rs1791670340
• gnomAD v3: 7-92496716-AT-A
• gnomAD v4: 7-92496716-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496717del , CM000669.2:g.92496717del	GRCh38
NC_000007.13:g.92126031del , CM000669.1:g.92126031del	GRCh37
NC_000007.12:g.91963967del	NCBI36
NG_008341.1:g.36815del
NG_008341.2:g.36815del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2779del MANE Select	ENSP00000248633.4:p.Ile927LeufsTer?
ENST00000248633.8:c.2779del	ENSP00000248633.4:p.Ile927LeufsTer?
ENST00000428214.5:c.2608del	ENSP00000394413.1:p.Ile870LeufsTer?
ENST00000438045.5:c.1813del	ENSP00000410438.1:p.Ile605LeufsTer?
ENST00000484913.5:n.2818del
ENST00000496420.5:n.2671del
NM_000466.2:c.2779del	NP_000457.1:p.Ile927LeufsTer?
NM_001282677.1:c.2608del	NP_001269606.1:p.Ile870LeufsTer?
NM_001282678.1:c.2155del	NP_001269607.1:p.Ile719LeufsTer?
XM_005250433.3:c.1030del	XP_005250490.1:p.Ile344LeufsTer?
XR_242246.3:n.2875del
XM_017012319.2:c.1030del	XP_016867808.1:p.Ile344LeufsTer?
XR_001744808.2:n.1806del
XR_242246.5:n.2826del
NM_000466.3:c.2779del MANE Select	NP_000457.1:p.Ile927LeufsTer?
NM_001282677.2:c.2608del	NP_001269606.1:p.Ile870LeufsTer?
NM_001282678.2:c.2155del	NP_001269607.1:p.Ile719LeufsTer?