Canonical Allele Identifier: CA2776946251

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502108_92502109insAG , CM000669.2:g.92502108_92502109insAG	GRCh38
NC_000007.13:g.92131422_92131423insAG , CM000669.1:g.92131422_92131423insAG	GRCh37
NC_000007.12:g.91969358_91969359insAG	NCBI36
NG_008341.1:g.31423_31424insCT
NG_008341.2:g.31423_31424insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-30_2227-29insCT MANE Select	ENSP00000248633.4:n.2227-30_2227-29insCT
ENST00000248633.8:c.2227-30_2227-29insCT	ENSP00000248633.4:n.2227-30_2227-29insCT
ENST00000428214.5:c.2056-30_2056-29insCT	ENSP00000394413.1:n.2056-30_2056-29insCT
ENST00000438045.5:c.1261-30_1261-29insCT	ENSP00000410438.1:n.1261-30_1261-29insCT
ENST00000484913.5:n.2266-30_2266-29insCT
ENST00000496092.1:n.25-30_25-29insCT
ENST00000496420.5:n.1903-30_1903-29insCT
NM_000466.2:c.2227-30_2227-29insCT	NP_000457.1:n.2227-30_2227-29insCT
NM_001282677.1:c.2056-30_2056-29insCT	NP_001269606.1:n.2056-30_2056-29insCT
NM_001282678.1:c.1603-30_1603-29insCT	NP_001269607.1:n.1603-30_1603-29insCT
XM_005250433.3:c.478-30_478-29insCT	XP_005250490.1:n.478-30_478-29insCT
XR_242246.3:n.2323-30_2323-29insCT
XM_017012319.2:c.478-30_478-29insCT	XP_016867808.1:n.478-30_478-29insCT
XR_001744808.2:n.1254-30_1254-29insCT
XR_242246.5:n.2274-30_2274-29insCT
NM_000466.3:c.2227-30_2227-29insCT MANE Select	NP_000457.1:n.2227-30_2227-29insCT
NM_001282677.2:c.2056-30_2056-29insCT	NP_001269606.1:n.2056-30_2056-29insCT
NM_001282678.2:c.1603-30_1603-29insCT	NP_001269607.1:n.1603-30_1603-29insCT