Canonical Allele Identifier: CA2776947285

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517592_92517596del , CM000669.2:g.92517592_92517596del	GRCh38
NC_000007.13:g.92146906_92146910del , CM000669.1:g.92146906_92146910del	GRCh37
NC_000007.12:g.91984842_91984846del	NCBI36
NG_008341.1:g.15936_15940del
NG_008341.2:g.15936_15940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.919_923del MANE Select	ENSP00000248633.4:p.His307ThrfsTer15
ENST00000248633.8:c.919_923del	ENSP00000248633.4:p.His307ThrfsTer15
ENST00000428214.5:c.919_923del	ENSP00000394413.1:p.His307ThrfsTer15
ENST00000438045.5:c.274-3629_274-3625del	ENSP00000410438.1:n.274-3629_274-3625del
ENST00000484913.5:n.958_962del
NM_000466.2:c.919_923del	NP_000457.1:p.His307ThrfsTer15
NM_001282677.1:c.919_923del	NP_001269606.1:p.His307ThrfsTer15
NM_001282678.1:c.295_299del	NP_001269607.1:p.His99ThrfsTer15
XR_242246.3:n.1015_1019del
XM_017012319.2:c.-748_-744del	XP_016867808.1:n.-748_-744del
XR_001744808.2:n.29_33del
XR_242246.5:n.966_970del
NM_000466.3:c.919_923del MANE Select	NP_000457.1:p.His307ThrfsTer15
NM_001282677.2:c.919_923del	NP_001269606.1:p.His307ThrfsTer15
NM_001282678.2:c.295_299del	NP_001269607.1:p.His99ThrfsTer15