Canonical Allele Identifier: CA2683718163

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496841-ACTAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496846_92496851del , CM000669.2:g.92496846_92496851del	GRCh38
NC_000007.13:g.92126160_92126165del , CM000669.1:g.92126160_92126165del	GRCh37
NC_000007.12:g.91964096_91964101del	NCBI36
NG_008341.1:g.36685_36690del
NG_008341.2:g.36685_36690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-70_2719-65del MANE Select	ENSP00000248633.4:n.2719-70_2719-65del
ENST00000248633.8:c.2719-70_2719-65del	ENSP00000248633.4:n.2719-70_2719-65del
ENST00000428214.5:c.2548-70_2548-65del	ENSP00000394413.1:n.2548-70_2548-65del
ENST00000438045.5:c.1753-70_1753-65del	ENSP00000410438.1:n.1753-70_1753-65del
ENST00000484913.5:n.2758-70_2758-65del
ENST00000496420.5:n.2611-70_2611-65del
NM_000466.2:c.2719-70_2719-65del	NP_000457.1:n.2719-70_2719-65del
NM_001282677.1:c.2548-70_2548-65del	NP_001269606.1:n.2548-70_2548-65del
NM_001282678.1:c.2095-70_2095-65del	NP_001269607.1:n.2095-70_2095-65del
XM_005250433.3:c.970-70_970-65del	XP_005250490.1:n.970-70_970-65del
XR_242246.3:n.2815-70_2815-65del
XM_017012319.2:c.970-70_970-65del	XP_016867808.1:n.970-70_970-65del
XR_001744808.2:n.1746-70_1746-65del
XR_242246.5:n.2766-70_2766-65del
NM_000466.3:c.2719-70_2719-65del MANE Select	NP_000457.1:n.2719-70_2719-65del
NM_001282677.2:c.2548-70_2548-65del	NP_001269606.1:n.2548-70_2548-65del
NM_001282678.2:c.2095-70_2095-65del	NP_001269607.1:n.2095-70_2095-65del