Canonical Allele Identifier: CA2776946320

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502180del , CM000669.2:g.92502180del	GRCh38
NC_000007.13:g.92131494del , CM000669.1:g.92131494del	GRCh37
NC_000007.12:g.91969430del	NCBI36
NG_008341.1:g.31352del
NG_008341.2:g.31352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-101del MANE Select	ENSP00000248633.4:n.2227-101del
ENST00000248633.8:c.2227-101del	ENSP00000248633.4:n.2227-101del
ENST00000428214.5:c.2056-101del	ENSP00000394413.1:n.2056-101del
ENST00000438045.5:c.1261-101del	ENSP00000410438.1:n.1261-101del
ENST00000484913.5:n.2266-101del
ENST00000496092.1:n.25-101del
ENST00000496420.5:n.1903-101del
NM_000466.2:c.2227-101del	NP_000457.1:n.2227-101del
NM_001282677.1:c.2056-101del	NP_001269606.1:n.2056-101del
NM_001282678.1:c.1603-101del	NP_001269607.1:n.1603-101del
XM_005250433.3:c.478-101del	XP_005250490.1:n.478-101del
XR_242246.3:n.2323-101del
XM_017012319.2:c.478-101del	XP_016867808.1:n.478-101del
XR_001744808.2:n.1254-101del
XR_242246.5:n.2274-101del
NM_000466.3:c.2227-101del MANE Select	NP_000457.1:n.2227-101del
NM_001282677.2:c.2056-101del	NP_001269606.1:n.2056-101del
NM_001282678.2:c.1603-101del	NP_001269607.1:n.1603-101del