Canonical Allele Identifier: CA2776945664

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496876del , CM000669.2:g.92496876del	GRCh38
NC_000007.13:g.92126190del , CM000669.1:g.92126190del	GRCh37
NC_000007.12:g.91964126del	NCBI36
NG_008341.1:g.36656del
NG_008341.2:g.36656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-99del MANE Select	ENSP00000248633.4:n.2719-99del
ENST00000248633.8:c.2719-99del	ENSP00000248633.4:n.2719-99del
ENST00000428214.5:c.2548-99del	ENSP00000394413.1:n.2548-99del
ENST00000438045.5:c.1753-99del	ENSP00000410438.1:n.1753-99del
ENST00000484913.5:n.2758-99del
ENST00000496420.5:n.2611-99del
NM_000466.2:c.2719-99del	NP_000457.1:n.2719-99del
NM_001282677.1:c.2548-99del	NP_001269606.1:n.2548-99del
NM_001282678.1:c.2095-99del	NP_001269607.1:n.2095-99del
XM_005250433.3:c.970-99del	XP_005250490.1:n.970-99del
XR_242246.3:n.2815-99del
XM_017012319.2:c.970-99del	XP_016867808.1:n.970-99del
XR_001744808.2:n.1746-99del
XR_242246.5:n.2766-99del
NM_000466.3:c.2719-99del MANE Select	NP_000457.1:n.2719-99del
NM_001282677.2:c.2548-99del	NP_001269606.1:n.2548-99del
NM_001282678.2:c.2095-99del	NP_001269607.1:n.2095-99del