Canonical Allele Identifier: CA2683718222

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499560-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499564_92499565del , CM000669.2:g.92499564_92499565del	GRCh38
NC_000007.13:g.92128878_92128879del , CM000669.1:g.92128878_92128879del	GRCh37
NC_000007.12:g.91966814_91966815del	NCBI36
NG_008341.1:g.33970_33971del
NG_008341.2:g.33970_33971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2718+142_2718+143del MANE Select	ENSP00000248633.4:n.2718+142_2718+143del
ENST00000248633.8:c.2718+142_2718+143del	ENSP00000248633.4:n.2718+142_2718+143del
ENST00000428214.5:c.2547+142_2547+143del	ENSP00000394413.1:n.2547+142_2547+143del
ENST00000438045.5:c.1752+142_1752+143del	ENSP00000410438.1:n.1752+142_1752+143del
ENST00000484913.5:n.2757+142_2757+143del
ENST00000496420.5:n.2610+142_2610+143del
NM_000466.2:c.2718+142_2718+143del	NP_000457.1:n.2718+142_2718+143del
NM_001282677.1:c.2547+142_2547+143del	NP_001269606.1:n.2547+142_2547+143del
NM_001282678.1:c.2094+142_2094+143del	NP_001269607.1:n.2094+142_2094+143del
XM_005250433.3:c.969+142_969+143del	XP_005250490.1:n.969+142_969+143del
XR_242246.3:n.2814+142_2814+143del
XM_017012319.2:c.969+142_969+143del	XP_016867808.1:n.969+142_969+143del
XR_001744808.2:n.1745+142_1745+143del
XR_242246.5:n.2765+142_2765+143del
NM_000466.3:c.2718+142_2718+143del MANE Select	NP_000457.1:n.2718+142_2718+143del
NM_001282677.2:c.2547+142_2547+143del	NP_001269606.1:n.2547+142_2547+143del
NM_001282678.2:c.2094+142_2094+143del	NP_001269607.1:n.2094+142_2094+143del