Canonical Allele Identifier: CA2776946245

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502092_92502093insAGT , CM000669.2:g.92502092_92502093insAGT	GRCh38
NC_000007.13:g.92131406_92131407insAGT , CM000669.1:g.92131406_92131407insAGT	GRCh37
NC_000007.12:g.91969342_91969343insAGT	NCBI36
NG_008341.1:g.31439_31440insACT
NG_008341.2:g.31439_31440insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-14_2227-13insACT MANE Select	ENSP00000248633.4:n.2227-14_2227-13insACT
ENST00000248633.8:c.2227-14_2227-13insACT	ENSP00000248633.4:n.2227-14_2227-13insACT
ENST00000428214.5:c.2056-14_2056-13insACT	ENSP00000394413.1:n.2056-14_2056-13insACT
ENST00000438045.5:c.1261-14_1261-13insACT	ENSP00000410438.1:n.1261-14_1261-13insACT
ENST00000484913.5:n.2266-14_2266-13insACT
ENST00000496092.1:n.25-14_25-13insACT
ENST00000496420.5:n.1903-14_1903-13insACT
NM_000466.2:c.2227-14_2227-13insACT	NP_000457.1:n.2227-14_2227-13insACT
NM_001282677.1:c.2056-14_2056-13insACT	NP_001269606.1:n.2056-14_2056-13insACT
NM_001282678.1:c.1603-14_1603-13insACT	NP_001269607.1:n.1603-14_1603-13insACT
XM_005250433.3:c.478-14_478-13insACT	XP_005250490.1:n.478-14_478-13insACT
XR_242246.3:n.2323-14_2323-13insACT
XM_017012319.2:c.478-14_478-13insACT	XP_016867808.1:n.478-14_478-13insACT
XR_001744808.2:n.1254-14_1254-13insACT
XR_242246.5:n.2274-14_2274-13insACT
NM_000466.3:c.2227-14_2227-13insACT MANE Select	NP_000457.1:n.2227-14_2227-13insACT
NM_001282677.2:c.2056-14_2056-13insACT	NP_001269606.1:n.2056-14_2056-13insACT
NM_001282678.2:c.1603-14_1603-13insACT	NP_001269607.1:n.1603-14_1603-13insACT