Canonical Allele Identifier: CA2776946310

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502169_92502170del , CM000669.2:g.92502169_92502170del	GRCh38
NC_000007.13:g.92131483_92131484del , CM000669.1:g.92131483_92131484del	GRCh37
NC_000007.12:g.91969419_91969420del	NCBI36
NG_008341.1:g.31363_31364del
NG_008341.2:g.31363_31364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-90_2227-89del MANE Select	ENSP00000248633.4:n.2227-90_2227-89del
ENST00000248633.8:c.2227-90_2227-89del	ENSP00000248633.4:n.2227-90_2227-89del
ENST00000428214.5:c.2056-90_2056-89del	ENSP00000394413.1:n.2056-90_2056-89del
ENST00000438045.5:c.1261-90_1261-89del	ENSP00000410438.1:n.1261-90_1261-89del
ENST00000484913.5:n.2266-90_2266-89del
ENST00000496092.1:n.25-90_25-89del
ENST00000496420.5:n.1903-90_1903-89del
NM_000466.2:c.2227-90_2227-89del	NP_000457.1:n.2227-90_2227-89del
NM_001282677.1:c.2056-90_2056-89del	NP_001269606.1:n.2056-90_2056-89del
NM_001282678.1:c.1603-90_1603-89del	NP_001269607.1:n.1603-90_1603-89del
XM_005250433.3:c.478-90_478-89del	XP_005250490.1:n.478-90_478-89del
XR_242246.3:n.2323-90_2323-89del
XM_017012319.2:c.478-90_478-89del	XP_016867808.1:n.478-90_478-89del
XR_001744808.2:n.1254-90_1254-89del
XR_242246.5:n.2274-90_2274-89del
NM_000466.3:c.2227-90_2227-89del MANE Select	NP_000457.1:n.2227-90_2227-89del
NM_001282677.2:c.2056-90_2056-89del	NP_001269606.1:n.2056-90_2056-89del
NM_001282678.2:c.1603-90_1603-89del	NP_001269607.1:n.1603-90_1603-89del