Canonical Allele Identifier: CA1725935023

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499407_92499408delinsAC , CM000669.2:g.92499407_92499408delinsAC	GRCh38
NC_000007.13:g.92128721_92128722delinsAC , CM000669.1:g.92128721_92128722delinsAC	GRCh37
NC_000007.12:g.91966657_91966658delinsAC	NCBI36
NG_008341.1:g.34124_34125delinsGT
NG_008341.2:g.34124_34125delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2718+296_2718+297delinsGT MANE Select	ENSP00000248633.4:n.2718+296_2718+297delinsGT
ENST00000248633.8:c.2718+296_2718+297delinsGT	ENSP00000248633.4:n.2718+296_2718+297delinsGT
ENST00000428214.5:c.2547+296_2547+297delinsGT	ENSP00000394413.1:n.2547+296_2547+297delinsGT
ENST00000438045.5:c.1752+296_1752+297delinsGT	ENSP00000410438.1:n.1752+296_1752+297delinsGT
ENST00000484913.5:n.2757+296_2757+297delinsGT
ENST00000496420.5:n.2610+296_2610+297delinsGT
NM_000466.2:c.2718+296_2718+297delinsGT	NP_000457.1:n.2718+296_2718+297delinsGT
NM_001282677.1:c.2547+296_2547+297delinsGT	NP_001269606.1:n.2547+296_2547+297delinsGT
NM_001282678.1:c.2094+296_2094+297delinsGT	NP_001269607.1:n.2094+296_2094+297delinsGT
XM_005250433.3:c.969+296_969+297delinsGT	XP_005250490.1:n.969+296_969+297delinsGT
XR_242246.3:n.2814+296_2814+297delinsGT
XM_017012319.2:c.969+296_969+297delinsGT	XP_016867808.1:n.969+296_969+297delinsGT
XR_001744808.2:n.1745+296_1745+297delinsGT
XR_242246.5:n.2765+296_2765+297delinsGT
NM_000466.3:c.2718+296_2718+297delinsGT MANE Select	NP_000457.1:n.2718+296_2718+297delinsGT
NM_001282677.2:c.2547+296_2547+297delinsGT	NP_001269606.1:n.2547+296_2547+297delinsGT
NM_001282678.2:c.2094+296_2094+297delinsGT	NP_001269607.1:n.2094+296_2094+297delinsGT