Canonical Allele Identifier: CA2776945660

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496869_92496870insAG , CM000669.2:g.92496869_92496870insAG	GRCh38
NC_000007.13:g.92126183_92126184insAG , CM000669.1:g.92126183_92126184insAG	GRCh37
NC_000007.12:g.91964119_91964120insAG	NCBI36
NG_008341.1:g.36662_36663insCT
NG_008341.2:g.36662_36663insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-93_2719-92insCT MANE Select	ENSP00000248633.4:n.2719-93_2719-92insCT
ENST00000248633.8:c.2719-93_2719-92insCT	ENSP00000248633.4:n.2719-93_2719-92insCT
ENST00000428214.5:c.2548-93_2548-92insCT	ENSP00000394413.1:n.2548-93_2548-92insCT
ENST00000438045.5:c.1753-93_1753-92insCT	ENSP00000410438.1:n.1753-93_1753-92insCT
ENST00000484913.5:n.2758-93_2758-92insCT
ENST00000496420.5:n.2611-93_2611-92insCT
NM_000466.2:c.2719-93_2719-92insCT	NP_000457.1:n.2719-93_2719-92insCT
NM_001282677.1:c.2548-93_2548-92insCT	NP_001269606.1:n.2548-93_2548-92insCT
NM_001282678.1:c.2095-93_2095-92insCT	NP_001269607.1:n.2095-93_2095-92insCT
XM_005250433.3:c.970-93_970-92insCT	XP_005250490.1:n.970-93_970-92insCT
XR_242246.3:n.2815-93_2815-92insCT
XM_017012319.2:c.970-93_970-92insCT	XP_016867808.1:n.970-93_970-92insCT
XR_001744808.2:n.1746-93_1746-92insCT
XR_242246.5:n.2766-93_2766-92insCT
NM_000466.3:c.2719-93_2719-92insCT MANE Select	NP_000457.1:n.2719-93_2719-92insCT
NM_001282677.2:c.2548-93_2548-92insCT	NP_001269606.1:n.2548-93_2548-92insCT
NM_001282678.2:c.2095-93_2095-92insCT	NP_001269607.1:n.2095-93_2095-92insCT