Canonical Allele Identifier: CA2776946257

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502114_92502115insACG , CM000669.2:g.92502114_92502115insACG	GRCh38
NC_000007.13:g.92131428_92131429insACG , CM000669.1:g.92131428_92131429insACG	GRCh37
NC_000007.12:g.91969364_91969365insACG	NCBI36
NG_008341.1:g.31417_31418insCGT
NG_008341.2:g.31417_31418insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-36_2227-35insCGT MANE Select	ENSP00000248633.4:n.2227-36_2227-35insCGT
ENST00000248633.8:c.2227-36_2227-35insCGT	ENSP00000248633.4:n.2227-36_2227-35insCGT
ENST00000428214.5:c.2056-36_2056-35insCGT	ENSP00000394413.1:n.2056-36_2056-35insCGT
ENST00000438045.5:c.1261-36_1261-35insCGT	ENSP00000410438.1:n.1261-36_1261-35insCGT
ENST00000484913.5:n.2266-36_2266-35insCGT
ENST00000496092.1:n.25-36_25-35insCGT
ENST00000496420.5:n.1903-36_1903-35insCGT
NM_000466.2:c.2227-36_2227-35insCGT	NP_000457.1:n.2227-36_2227-35insCGT
NM_001282677.1:c.2056-36_2056-35insCGT	NP_001269606.1:n.2056-36_2056-35insCGT
NM_001282678.1:c.1603-36_1603-35insCGT	NP_001269607.1:n.1603-36_1603-35insCGT
XM_005250433.3:c.478-36_478-35insCGT	XP_005250490.1:n.478-36_478-35insCGT
XR_242246.3:n.2323-36_2323-35insCGT
XM_017012319.2:c.478-36_478-35insCGT	XP_016867808.1:n.478-36_478-35insCGT
XR_001744808.2:n.1254-36_1254-35insCGT
XR_242246.5:n.2274-36_2274-35insCGT
NM_000466.3:c.2227-36_2227-35insCGT MANE Select	NP_000457.1:n.2227-36_2227-35insCGT
NM_001282677.2:c.2056-36_2056-35insCGT	NP_001269606.1:n.2056-36_2056-35insCGT
NM_001282678.2:c.1603-36_1603-35insCGT	NP_001269607.1:n.1603-36_1603-35insCGT