Canonical Allele Identifier: CA2776946307

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502166_92502168del , CM000669.2:g.92502166_92502168del	GRCh38
NC_000007.13:g.92131480_92131482del , CM000669.1:g.92131480_92131482del	GRCh37
NC_000007.12:g.91969416_91969418del	NCBI36
NG_008341.1:g.31364_31366del
NG_008341.2:g.31364_31366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-89_2227-87del MANE Select	ENSP00000248633.4:n.2227-89_2227-87del
ENST00000248633.8:c.2227-89_2227-87del	ENSP00000248633.4:n.2227-89_2227-87del
ENST00000428214.5:c.2056-89_2056-87del	ENSP00000394413.1:n.2056-89_2056-87del
ENST00000438045.5:c.1261-89_1261-87del	ENSP00000410438.1:n.1261-89_1261-87del
ENST00000484913.5:n.2266-89_2266-87del
ENST00000496092.1:n.25-89_25-87del
ENST00000496420.5:n.1903-89_1903-87del
NM_000466.2:c.2227-89_2227-87del	NP_000457.1:n.2227-89_2227-87del
NM_001282677.1:c.2056-89_2056-87del	NP_001269606.1:n.2056-89_2056-87del
NM_001282678.1:c.1603-89_1603-87del	NP_001269607.1:n.1603-89_1603-87del
XM_005250433.3:c.478-89_478-87del	XP_005250490.1:n.478-89_478-87del
XR_242246.3:n.2323-89_2323-87del
XM_017012319.2:c.478-89_478-87del	XP_016867808.1:n.478-89_478-87del
XR_001744808.2:n.1254-89_1254-87del
XR_242246.5:n.2274-89_2274-87del
NM_000466.3:c.2227-89_2227-87del MANE Select	NP_000457.1:n.2227-89_2227-87del
NM_001282677.2:c.2056-89_2056-87del	NP_001269606.1:n.2056-89_2056-87del
NM_001282678.2:c.1603-89_1603-87del	NP_001269607.1:n.1603-89_1603-87del