Canonical Allele Identifier: CA1104468478

Gene: PEX1

Linked Data

• dbSNP Id: rs1792083718
• gnomAD v3: 7-92504485-ATAAG-A
• gnomAD v4: 7-92504485-ATAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504490_92504493del , CM000669.2:g.92504490_92504493del	GRCh38
NC_000007.13:g.92133804_92133807del , CM000669.1:g.92133804_92133807del	GRCh37
NC_000007.12:g.91971740_91971743del	NCBI36
NG_008341.1:g.29043_29046del
NG_008341.2:g.29043_29046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2071+243_2071+246del MANE Select	ENSP00000248633.4:n.2071+243_2071+246del
ENST00000248633.8:c.2071+243_2071+246del	ENSP00000248633.4:n.2071+243_2071+246del
ENST00000428214.5:c.1901-1294_1901-1291del	ENSP00000394413.1:n.1901-1294_1901-1291del
ENST00000438045.5:c.1105+243_1105+246del	ENSP00000410438.1:n.1105+243_1105+246del
ENST00000484913.5:n.2110+243_2110+246del
ENST00000496420.5:n.1747+243_1747+246del
NM_000466.2:c.2071+243_2071+246del	NP_000457.1:n.2071+243_2071+246del
NM_001282677.1:c.1901-1294_1901-1291del	NP_001269606.1:n.1901-1294_1901-1291del
NM_001282678.1:c.1447+243_1447+246del	NP_001269607.1:n.1447+243_1447+246del
XM_005250433.3:c.322+243_322+246del	XP_005250490.1:n.322+243_322+246del
XR_242246.3:n.2167+243_2167+246del
XM_017012319.2:c.322+243_322+246del	XP_016867808.1:n.322+243_322+246del
XR_001744808.2:n.1098+243_1098+246del
XR_242246.5:n.2118+243_2118+246del
NM_000466.3:c.2071+243_2071+246del MANE Select	NP_000457.1:n.2071+243_2071+246del
NM_001282677.2:c.1901-1294_1901-1291del	NP_001269606.1:n.1901-1294_1901-1291del
NM_001282678.2:c.1447+243_1447+246del	NP_001269607.1:n.1447+243_1447+246del