Canonical Allele Identifier: CA2683718729

Gene: PEX1

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504681del , CM000669.2:g.92504681del	GRCh38
NC_000007.13:g.92133995del , CM000669.1:g.92133995del	GRCh37
NC_000007.12:g.91971931del	NCBI36
NG_008341.1:g.28855del
NG_008341.2:g.28855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2071+55del MANE Select	ENSP00000248633.4:n.2071+55del
ENST00000248633.8:c.2071+55del	ENSP00000248633.4:n.2071+55del
ENST00000428214.5:c.1901-1482del	ENSP00000394413.1:n.1901-1482del
ENST00000438045.5:c.1105+55del	ENSP00000410438.1:n.1105+55del
ENST00000484913.5:n.2110+55del
ENST00000496420.5:n.1747+55del
NM_000466.2:c.2071+55del	NP_000457.1:n.2071+55del
NM_001282677.1:c.1901-1482del	NP_001269606.1:n.1901-1482del
NM_001282678.1:c.1447+55del	NP_001269607.1:n.1447+55del
XM_005250433.3:c.322+55del	XP_005250490.1:n.322+55del
XR_242246.3:n.2167+55del
XM_017012319.2:c.322+55del	XP_016867808.1:n.322+55del
XR_001744808.2:n.1098+55del
XR_242246.5:n.2118+55del
NM_000466.3:c.2071+55del MANE Select	NP_000457.1:n.2071+55del
NM_001282677.2:c.1901-1482del	NP_001269606.1:n.1901-1482del
NM_001282678.2:c.1447+55del	NP_001269607.1:n.1447+55del