Canonical Allele Identifier: CA2683718319

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499648-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499649del , CM000669.2:g.92499649del	GRCh38
NC_000007.13:g.92128963del , CM000669.1:g.92128963del	GRCh37
NC_000007.12:g.91966899del	NCBI36
NG_008341.1:g.33883del
NG_008341.2:g.33883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2718+55del MANE Select	ENSP00000248633.4:n.2718+55del
ENST00000248633.8:c.2718+55del	ENSP00000248633.4:n.2718+55del
ENST00000428214.5:c.2547+55del	ENSP00000394413.1:n.2547+55del
ENST00000438045.5:c.1752+55del	ENSP00000410438.1:n.1752+55del
ENST00000484913.5:n.2757+55del
ENST00000496420.5:n.2610+55del
NM_000466.2:c.2718+55del	NP_000457.1:n.2718+55del
NM_001282677.1:c.2547+55del	NP_001269606.1:n.2547+55del
NM_001282678.1:c.2094+55del	NP_001269607.1:n.2094+55del
XM_005250433.3:c.969+55del	XP_005250490.1:n.969+55del
XR_242246.3:n.2814+55del
XM_017012319.2:c.969+55del	XP_016867808.1:n.969+55del
XR_001744808.2:n.1745+55del
XR_242246.5:n.2765+55del
NM_000466.3:c.2718+55del MANE Select	NP_000457.1:n.2718+55del
NM_001282677.2:c.2547+55del	NP_001269606.1:n.2547+55del
NM_001282678.2:c.2094+55del	NP_001269607.1:n.2094+55del