Canonical Allele Identifier: CA2580615933

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1074539
• ClinVar RCV Id: RCV001387869 ; RCV003473983
• dbSNP Id: rs2116132444

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499734_92499735del , CM000669.2:g.92499734_92499735del	GRCh38
NC_000007.13:g.92129048_92129049del , CM000669.1:g.92129048_92129049del	GRCh37
NC_000007.12:g.91966984_91966985del	NCBI36
NG_008341.1:g.33802_33803del
NG_008341.2:g.33802_33803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2692_2693del MANE Select	ENSP00000248633.4:p.Ser898Ter
ENST00000248633.8:c.2692_2693del	ENSP00000248633.4:p.Ser898Ter
ENST00000428214.5:c.2521_2522del	ENSP00000394413.1:p.Ser841Ter
ENST00000438045.5:c.1726_1727del	ENSP00000410438.1:p.Ser576Ter
ENST00000484913.5:n.2731_2732del
ENST00000496420.5:n.2584_2585del
NM_000466.2:c.2692_2693del	NP_000457.1:p.Ser898Ter
NM_001282677.1:c.2521_2522del	NP_001269606.1:p.Ser841Ter
NM_001282678.1:c.2068_2069del	NP_001269607.1:p.Ser690Ter
XM_005250433.3:c.943_944del	XP_005250490.1:p.Ser315Ter
XR_242246.3:n.2788_2789del
XM_017012319.2:c.943_944del	XP_016867808.1:p.Ser315Ter
XR_001744808.2:n.1719_1720del
XR_242246.5:n.2739_2740del
NM_000466.3:c.2692_2693del MANE Select	NP_000457.1:p.Ser898Ter
NM_001282677.2:c.2521_2522del	NP_001269606.1:p.Ser841Ter
NM_001282678.2:c.2068_2069del	NP_001269607.1:p.Ser690Ter