Canonical Allele Identifier: CA1725935089

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499576_92499580delinsTAGAG , CM000669.2:g.92499576_92499580delinsTAGAG	GRCh38
NC_000007.13:g.92128890_92128894delinsTAGAG , CM000669.1:g.92128890_92128894delinsTAGAG	GRCh37
NC_000007.12:g.91966826_91966830delinsTAGAG	NCBI36
NG_008341.1:g.33952_33956delinsCTCTA
NG_008341.2:g.33952_33956delinsCTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2718+124_2718+128delinsCTCTA MANE Select	ENSP00000248633.4:n.2718+124_2718+128delinsCTCTA
ENST00000248633.8:c.2718+124_2718+128delinsCTCTA	ENSP00000248633.4:n.2718+124_2718+128delinsCTCTA
ENST00000428214.5:c.2547+124_2547+128delinsCTCTA	ENSP00000394413.1:n.2547+124_2547+128delinsCTCTA
ENST00000438045.5:c.1752+124_1752+128delinsCTCTA	ENSP00000410438.1:n.1752+124_1752+128delinsCTCTA
ENST00000484913.5:n.2757+124_2757+128delinsCTCTA
ENST00000496420.5:n.2610+124_2610+128delinsCTCTA
NM_000466.2:c.2718+124_2718+128delinsCTCTA	NP_000457.1:n.2718+124_2718+128delinsCTCTA
NM_001282677.1:c.2547+124_2547+128delinsCTCTA	NP_001269606.1:n.2547+124_2547+128delinsCTCTA
NM_001282678.1:c.2094+124_2094+128delinsCTCTA	NP_001269607.1:n.2094+124_2094+128delinsCTCTA
XM_005250433.3:c.969+124_969+128delinsCTCTA	XP_005250490.1:n.969+124_969+128delinsCTCTA
XR_242246.3:n.2814+124_2814+128delinsCTCTA
XM_017012319.2:c.969+124_969+128delinsCTCTA	XP_016867808.1:n.969+124_969+128delinsCTCTA
XR_001744808.2:n.1745+124_1745+128delinsCTCTA
XR_242246.5:n.2765+124_2765+128delinsCTCTA
NM_000466.3:c.2718+124_2718+128delinsCTCTA MANE Select	NP_000457.1:n.2718+124_2718+128delinsCTCTA
NM_001282677.2:c.2547+124_2547+128delinsCTCTA	NP_001269606.1:n.2547+124_2547+128delinsCTCTA
NM_001282678.2:c.2094+124_2094+128delinsCTCTA	NP_001269607.1:n.2094+124_2094+128delinsCTCTA