Canonical Allele Identifier: CA2776946279

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502132_92502133insAC , CM000669.2:g.92502132_92502133insAC	GRCh38
NC_000007.13:g.92131446_92131447insAC , CM000669.1:g.92131446_92131447insAC	GRCh37
NC_000007.12:g.91969382_91969383insAC	NCBI36
NG_008341.1:g.31399_31400insGT
NG_008341.2:g.31399_31400insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-54_2227-53insGT MANE Select	ENSP00000248633.4:n.2227-54_2227-53insGT
ENST00000248633.8:c.2227-54_2227-53insGT	ENSP00000248633.4:n.2227-54_2227-53insGT
ENST00000428214.5:c.2056-54_2056-53insGT	ENSP00000394413.1:n.2056-54_2056-53insGT
ENST00000438045.5:c.1261-54_1261-53insGT	ENSP00000410438.1:n.1261-54_1261-53insGT
ENST00000484913.5:n.2266-54_2266-53insGT
ENST00000496092.1:n.25-54_25-53insGT
ENST00000496420.5:n.1903-54_1903-53insGT
NM_000466.2:c.2227-54_2227-53insGT	NP_000457.1:n.2227-54_2227-53insGT
NM_001282677.1:c.2056-54_2056-53insGT	NP_001269606.1:n.2056-54_2056-53insGT
NM_001282678.1:c.1603-54_1603-53insGT	NP_001269607.1:n.1603-54_1603-53insGT
XM_005250433.3:c.478-54_478-53insGT	XP_005250490.1:n.478-54_478-53insGT
XR_242246.3:n.2323-54_2323-53insGT
XM_017012319.2:c.478-54_478-53insGT	XP_016867808.1:n.478-54_478-53insGT
XR_001744808.2:n.1254-54_1254-53insGT
XR_242246.5:n.2274-54_2274-53insGT
NM_000466.3:c.2227-54_2227-53insGT MANE Select	NP_000457.1:n.2227-54_2227-53insGT
NM_001282677.2:c.2056-54_2056-53insGT	NP_001269606.1:n.2056-54_2056-53insGT
NM_001282678.2:c.1603-54_1603-53insGT	NP_001269607.1:n.1603-54_1603-53insGT