Canonical Allele Identifier: CA2683718368

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499683-GAAGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499687_92499691del , CM000669.2:g.92499687_92499691del	GRCh38
NC_000007.13:g.92129001_92129005del , CM000669.1:g.92129001_92129005del	GRCh37
NC_000007.12:g.91966937_91966941del	NCBI36
NG_008341.1:g.33844_33848del
NG_008341.2:g.33844_33848del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2718+16_2718+20del MANE Select	ENSP00000248633.4:n.2718+16_2718+20del
ENST00000248633.8:c.2718+16_2718+20del	ENSP00000248633.4:n.2718+16_2718+20del
ENST00000428214.5:c.2547+16_2547+20del	ENSP00000394413.1:n.2547+16_2547+20del
ENST00000438045.5:c.1752+16_1752+20del	ENSP00000410438.1:n.1752+16_1752+20del
ENST00000484913.5:n.2757+16_2757+20del
ENST00000496420.5:n.2610+16_2610+20del
NM_000466.2:c.2718+16_2718+20del	NP_000457.1:n.2718+16_2718+20del
NM_001282677.1:c.2547+16_2547+20del	NP_001269606.1:n.2547+16_2547+20del
NM_001282678.1:c.2094+16_2094+20del	NP_001269607.1:n.2094+16_2094+20del
XM_005250433.3:c.969+16_969+20del	XP_005250490.1:n.969+16_969+20del
XR_242246.3:n.2814+16_2814+20del
XM_017012319.2:c.969+16_969+20del	XP_016867808.1:n.969+16_969+20del
XR_001744808.2:n.1745+16_1745+20del
XR_242246.5:n.2765+16_2765+20del
NM_000466.3:c.2718+16_2718+20del MANE Select	NP_000457.1:n.2718+16_2718+20del
NM_001282677.2:c.2547+16_2547+20del	NP_001269606.1:n.2547+16_2547+20del
NM_001282678.2:c.2094+16_2094+20del	NP_001269607.1:n.2094+16_2094+20del