Canonical Allele Identifier: CA891842767

Gene: PEX1

Linked Data

• ClinVar Variation Id: 576112
• ClinVar RCV Id: RCV001175577 ; RCV000698530 ; RCV002233664
• dbSNP Id: rs1554372180
• gnomAD v4: 7-92504875-GT-G
• MyVariant Identifiers: chr7:g.92134190del (hg19) ; chr7:g.92504876del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504881del , CM000669.2:g.92504881del	GRCh38
NC_000007.13:g.92134195del , CM000669.1:g.92134195del	GRCh37
NC_000007.12:g.91972131del	NCBI36
NG_008341.1:g.28656del
NG_008341.2:g.28656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1927del MANE Select	ENSP00000248633.4:p.Thr643ProfsTer2
ENST00000248633.8:c.1927del	ENSP00000248633.4:p.Thr643ProfsTer2
ENST00000428214.5:c.1900+1372del	ENSP00000394413.1:n.1900+1372del
ENST00000438045.5:c.961del	ENSP00000410438.1:p.Thr321ProfsTer2
ENST00000484913.5:n.1966del
ENST00000496420.5:n.1603del
NM_000466.2:c.1927del	NP_000457.1:p.Thr643ProfsTer2
NM_001282677.1:c.1900+1372del	NP_001269606.1:n.1900+1372del
NM_001282678.1:c.1303del	NP_001269607.1:p.Thr435ProfsTer2
XM_005250433.3:c.178del	XP_005250490.1:p.Thr60ProfsTer2
XR_242246.3:n.2023del
XM_017012319.2:c.178del	XP_016867808.1:p.Thr60ProfsTer2
XR_001744808.2:n.954del
XR_242246.5:n.1974del
NM_000466.3:c.1927del MANE Select	NP_000457.1:p.Thr643ProfsTer2
NM_001282677.2:c.1900+1372del	NP_001269606.1:n.1900+1372del
NM_001282678.2:c.1303del	NP_001269607.1:p.Thr435ProfsTer2