Canonical Allele Identifier: CA2683718356

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499679-AAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499682_92499685del , CM000669.2:g.92499682_92499685del	GRCh38
NC_000007.13:g.92128996_92128999del , CM000669.1:g.92128996_92128999del	GRCh37
NC_000007.12:g.91966932_91966935del	NCBI36
NG_008341.1:g.33849_33852del
NG_008341.2:g.33849_33852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2718+21_2718+24del MANE Select	ENSP00000248633.4:n.2718+21_2718+24del
ENST00000248633.8:c.2718+21_2718+24del	ENSP00000248633.4:n.2718+21_2718+24del
ENST00000428214.5:c.2547+21_2547+24del	ENSP00000394413.1:n.2547+21_2547+24del
ENST00000438045.5:c.1752+21_1752+24del	ENSP00000410438.1:n.1752+21_1752+24del
ENST00000484913.5:n.2757+21_2757+24del
ENST00000496420.5:n.2610+21_2610+24del
NM_000466.2:c.2718+21_2718+24del	NP_000457.1:n.2718+21_2718+24del
NM_001282677.1:c.2547+21_2547+24del	NP_001269606.1:n.2547+21_2547+24del
NM_001282678.1:c.2094+21_2094+24del	NP_001269607.1:n.2094+21_2094+24del
XM_005250433.3:c.969+21_969+24del	XP_005250490.1:n.969+21_969+24del
XR_242246.3:n.2814+21_2814+24del
XM_017012319.2:c.969+21_969+24del	XP_016867808.1:n.969+21_969+24del
XR_001744808.2:n.1745+21_1745+24del
XR_242246.5:n.2765+21_2765+24del
NM_000466.3:c.2718+21_2718+24del MANE Select	NP_000457.1:n.2718+21_2718+24del
NM_001282677.2:c.2547+21_2547+24del	NP_001269606.1:n.2547+21_2547+24del
NM_001282678.2:c.2094+21_2094+24del	NP_001269607.1:n.2094+21_2094+24del