Canonical Allele Identifier: CA2776946328

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502208_92502209insA , CM000669.2:g.92502208_92502209insA	GRCh38
NC_000007.13:g.92131522_92131523insA , CM000669.1:g.92131522_92131523insA	GRCh37
NC_000007.12:g.91969458_91969459insA	NCBI36
NG_008341.1:g.31323_31324insT
NG_008341.2:g.31323_31324insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-130_2227-129insT MANE Select	ENSP00000248633.4:n.2227-130_2227-129insT
ENST00000248633.8:c.2227-130_2227-129insT	ENSP00000248633.4:n.2227-130_2227-129insT
ENST00000428214.5:c.2056-130_2056-129insT	ENSP00000394413.1:n.2056-130_2056-129insT
ENST00000438045.5:c.1261-130_1261-129insT	ENSP00000410438.1:n.1261-130_1261-129insT
ENST00000484913.5:n.2266-130_2266-129insT
ENST00000496092.1:n.25-130_25-129insT
ENST00000496420.5:n.1903-130_1903-129insT
NM_000466.2:c.2227-130_2227-129insT	NP_000457.1:n.2227-130_2227-129insT
NM_001282677.1:c.2056-130_2056-129insT	NP_001269606.1:n.2056-130_2056-129insT
NM_001282678.1:c.1603-130_1603-129insT	NP_001269607.1:n.1603-130_1603-129insT
XM_005250433.3:c.478-130_478-129insT	XP_005250490.1:n.478-130_478-129insT
XR_242246.3:n.2323-130_2323-129insT
XM_017012319.2:c.478-130_478-129insT	XP_016867808.1:n.478-130_478-129insT
XR_001744808.2:n.1254-130_1254-129insT
XR_242246.5:n.2274-130_2274-129insT
NM_000466.3:c.2227-130_2227-129insT MANE Select	NP_000457.1:n.2227-130_2227-129insT
NM_001282677.2:c.2056-130_2056-129insT	NP_001269606.1:n.2056-130_2056-129insT
NM_001282678.2:c.1603-130_1603-129insT	NP_001269607.1:n.1603-130_1603-129insT