Canonical Allele Identifier: CA2683718350

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499675-TAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499680_92499682del , CM000669.2:g.92499680_92499682del	GRCh38
NC_000007.13:g.92128994_92128996del , CM000669.1:g.92128994_92128996del	GRCh37
NC_000007.12:g.91966930_91966932del	NCBI36
NG_008341.1:g.33854_33856del
NG_008341.2:g.33854_33856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2718+26_2718+28del MANE Select	ENSP00000248633.4:n.2718+26_2718+28del
ENST00000248633.8:c.2718+26_2718+28del	ENSP00000248633.4:n.2718+26_2718+28del
ENST00000428214.5:c.2547+26_2547+28del	ENSP00000394413.1:n.2547+26_2547+28del
ENST00000438045.5:c.1752+26_1752+28del	ENSP00000410438.1:n.1752+26_1752+28del
ENST00000484913.5:n.2757+26_2757+28del
ENST00000496420.5:n.2610+26_2610+28del
NM_000466.2:c.2718+26_2718+28del	NP_000457.1:n.2718+26_2718+28del
NM_001282677.1:c.2547+26_2547+28del	NP_001269606.1:n.2547+26_2547+28del
NM_001282678.1:c.2094+26_2094+28del	NP_001269607.1:n.2094+26_2094+28del
XM_005250433.3:c.969+26_969+28del	XP_005250490.1:n.969+26_969+28del
XR_242246.3:n.2814+26_2814+28del
XM_017012319.2:c.969+26_969+28del	XP_016867808.1:n.969+26_969+28del
XR_001744808.2:n.1745+26_1745+28del
XR_242246.5:n.2765+26_2765+28del
NM_000466.3:c.2718+26_2718+28del MANE Select	NP_000457.1:n.2718+26_2718+28del
NM_001282677.2:c.2547+26_2547+28del	NP_001269606.1:n.2547+26_2547+28del
NM_001282678.2:c.2094+26_2094+28del	NP_001269607.1:n.2094+26_2094+28del