Canonical Allele Identifier: CA1725933486

Gene: PEX1

Linked Data

• dbSNP Id: rs1791676419
• gnomAD v4: 7-92496834-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496837del , CM000669.2:g.92496837del	GRCh38
NC_000007.13:g.92126151del , CM000669.1:g.92126151del	GRCh37
NC_000007.12:g.91964087del	NCBI36
NG_008341.1:g.36697del
NG_008341.2:g.36697del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2719-58del MANE Select	ENSP00000248633.4:n.2719-58del
ENST00000248633.8:c.2719-58del	ENSP00000248633.4:n.2719-58del
ENST00000428214.5:c.2548-58del	ENSP00000394413.1:n.2548-58del
ENST00000438045.5:c.1753-58del	ENSP00000410438.1:n.1753-58del
ENST00000484913.5:n.2758-58del
ENST00000496420.5:n.2611-58del
NM_000466.2:c.2719-58del	NP_000457.1:n.2719-58del
NM_001282677.1:c.2548-58del	NP_001269606.1:n.2548-58del
NM_001282678.1:c.2095-58del	NP_001269607.1:n.2095-58del
XM_005250433.3:c.970-58del	XP_005250490.1:n.970-58del
XR_242246.3:n.2815-58del
XM_017012319.2:c.970-58del	XP_016867808.1:n.970-58del
XR_001744808.2:n.1746-58del
XR_242246.5:n.2766-58del
NM_000466.3:c.2719-58del MANE Select	NP_000457.1:n.2719-58del
NM_001282677.2:c.2548-58del	NP_001269606.1:n.2548-58del
NM_001282678.2:c.2095-58del	NP_001269607.1:n.2095-58del