Canonical Allele Identifier: CA2776945911

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499576_92499642del , CM000669.2:g.92499576_92499642del	GRCh38
NC_000007.13:g.92128890_92128956del , CM000669.1:g.92128890_92128956del	GRCh37
NC_000007.12:g.91966826_91966892del	NCBI36
NG_008341.1:g.33898_33964del
NG_008341.2:g.33898_33964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2718+70_2718+136del MANE Select	ENSP00000248633.4:n.2718+70_2718+136del
ENST00000248633.8:c.2718+70_2718+136del	ENSP00000248633.4:n.2718+70_2718+136del
ENST00000428214.5:c.2547+70_2547+136del	ENSP00000394413.1:n.2547+70_2547+136del
ENST00000438045.5:c.1752+70_1752+136del	ENSP00000410438.1:n.1752+70_1752+136del
ENST00000484913.5:n.2757+70_2757+136del
ENST00000496420.5:n.2610+70_2610+136del
NM_000466.2:c.2718+70_2718+136del	NP_000457.1:n.2718+70_2718+136del
NM_001282677.1:c.2547+70_2547+136del	NP_001269606.1:n.2547+70_2547+136del
NM_001282678.1:c.2094+70_2094+136del	NP_001269607.1:n.2094+70_2094+136del
XM_005250433.3:c.969+70_969+136del	XP_005250490.1:n.969+70_969+136del
XR_242246.3:n.2814+70_2814+136del
XM_017012319.2:c.969+70_969+136del	XP_016867808.1:n.969+70_969+136del
XR_001744808.2:n.1745+70_1745+136del
XR_242246.5:n.2765+70_2765+136del
NM_000466.3:c.2718+70_2718+136del MANE Select	NP_000457.1:n.2718+70_2718+136del
NM_001282677.2:c.2547+70_2547+136del	NP_001269606.1:n.2547+70_2547+136del
NM_001282678.2:c.2094+70_2094+136del	NP_001269607.1:n.2094+70_2094+136del